Gene Symbol | rsID | Chromosome | CNV Start | CNV End | Name | SNP Start | SNP End | Ref NCBI | Observed | Strand | Function | Allele Frequency | PMID | Method |
---|
RFK | rs146379228 | chr9 | 78994981 | 79029103 | nsv6570 | 79008112 | 79008113 | A | A/G | + | intron | 0.989899,0.010101, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs2501922 | chr9 | 78994981 | 79029103 | nsv6570 | 79008242 | 79008243 | T | A/G | - | intron | 0.421775,0.578225, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs2490581 | chr9 | 78994981 | 79029103 | nsv6570 | 79008283 | 79008284 | A | A/G | + | intron | 0.072212,0.927788, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs35432738 | chr9 | 78994981 | 79029103 | nsv6570 | 79008304 | 79008305 | C | C/T | + | intron | 0.978440,0.021560, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs7022515 | chr9 | 78994981 | 79029103 | nsv6570 | 79008450 | 79008451 | C | C/T | + | intron | 0.989918,0.010082, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs62567919 | chr9 | 78994981 | 79029103 | nsv6570 | 79008643 | 79008644 | G | G/T | + | intron | 0.801831,0.198169, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs7045064 | chr9 | 78994981 | 79029103 | nsv6570 | 79008673 | 79008674 | T | C/T | + | intron | 0.026690,0.973310, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs41288757 | chr9 | 78994981 | 79029103 | nsv6570 | 79008946 | 79008947 | C | C/T | + | intron | 0.983930,0.016070, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs3739729 | chr9 | 78994981 | 79029103 | nsv6570 | 79009138 | 79009139 | A | A/G | + | untranslated-5 | 0.662706,0.337294, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs11548954 | chr9 | 78994981 | 79029103 | nsv6570 | 79009203 | 79009204 | C | A/G | - | untranslated-5 | 0.200183,0.799817, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs11548952 | chr9 | 78994981 | 79029103 | nsv6570 | 79009235 | 79009236 | G | C/T | - | untranslated-5 | 0.974747,0.025253, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs7026641 | chr9 | 78994981 | 79029103 | nsv6570 | 79009255 | 79009256 | C | C/T | + | untranslated-5 | 0.988062,0.011938, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs142046364 | chr9 | 78994981 | 79029103 | nsv6570 | 79009289 | 79009290 | C | A/C | + | untranslated-5 | 0.014692,0.985308, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs3739730 | chr9 | 78994981 | 79029103 | nsv6570 | 79009346 | 79009347 | G | A/G | + | untranslated-5 | 0.194597,0.805403, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs11548955 | chr9 | 78994981 | 79029103 | nsv6570 | 79009365 | 79009366 | G | C/T | - | untranslated-5 | 0.862844,0.137156, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | RFK | rs114707234 | chr9 | 78994981 | 79029103 | nsv6570 | 79009421 | 79009422 | C | C/T | + | untranslated-5 | 0.955139,0.044861, | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | AIFM1 | rs139484016 | chrX | 128769658 | 129563826 | nsv528290 | 129264825 | 129264826 | C | C/T | + | intron | 0.983071,0.016929, | 19592680 | SNP array | AIFM1 | rs210023 | chrX | 128769658 | 129563826 | nsv528290 | 129265393 | 129265394 | A | C/T | - | intron | 0.038061,0.470095,0.49184 | 19592680 | SNP array | AIFM1 | rs190380944 | chrX | 128769658 | 129563826 | nsv528290 | 129267708 | 129267709 | C | C/T | + | intron | 0.987908,0.012092, | 19592680 | SNP array | AIFM1 | rs586041 | chrX | 128769658 | 129563826 | nsv528290 | 129268388 | 129268389 | T | A/T | - | intron | 0.010835,0.561174,0.42799 | 19592680 | SNP array | AIFM1 | rs209997 | chrX | 128769658 | 129563826 | nsv528290 | 129269779 | 129269780 | G | C/G | + | intron | 0.005865,0.424687,0.56944 | 19592680 | SNP array | AIFM1 | rs209998 | chrX | 128769658 | 129563826 | nsv528290 | 129269979 | 129269980 | G | A/G | + | intron | 0.015764,0.443427,0.00813 | 19592680 | SNP array | AIFM1 | rs12007545 | chrX | 128769658 | 129563826 | nsv528290 | 129271131 | 129271132 | T | C/T | + | coding-synon,untranslated-3,untranslated-5 | 0.032759,0.967241, | 19592680 | SNP array | AIFM1 | rs142046747 | chrX | 128769658 | 129563826 | nsv528290 | 129271797 | 129271798 | G | A/G | + | intron,untranslated-5 | 0.012696,0.987304, | 19592680 | SNP array | AIFM1 | rs12010190 | chrX | 128769658 | 129563826 | nsv528290 | 129272440 | 129272441 | A | A/G | + | intron,near-gene-5 | 0.980048,0.019952, | 19592680 | SNP array | AIFM1 | rs182805215 | chrX | 128769658 | 129563826 | nsv528290 | 129272448 | 129272449 | T | A/T | + | intron,near-gene-5 | 0.029021,0.970979, | 19592680 | SNP array | AIFM1 | rs200686111 | chrX | 128769658 | 129563826 | nsv528290 | 129272448 | 129272449 | T | -/T | + | intron,near-gene-5 | 0.024184,0.975816, | 19592680 | SNP array | AIFM1 | rs12014323 | chrX | 128769658 | 129563826 | nsv528290 | 129272519 | 129272520 | C | C/T | + | intron,near-gene-5 | 0.968689,0.031311, | 19592680 | SNP array | AIFM1 | rs12014115 | chrX | 128769658 | 129563826 | nsv528290 | 129272616 | 129272617 | G | A/G | + | coding-synon,intron,near-gene-5 | 0.033072,0.966928, | 19592680 | SNP array | AIFM1 | rs209999 | chrX | 128769658 | 129563826 | nsv528290 | 129273247 | 129273248 | A | A/G | + | intron,near-gene-5 | 0.553679,0.446321, | 19592680 | SNP array | AIFM1 | rs210000 | chrX | 128769658 | 129563826 | nsv528290 | 129274955 | 129274956 | C | C/T | + | intron | 0.003544,0.513290,0.48316 | 19592680 | SNP array | AIFM1 | rs188336 | chrX | 128769658 | 129563826 | nsv528290 | 129277092 | 129277093 | T | G/T | + | intron | 0.444498,0.555502, | 19592680 | SNP array | AIFM1 | rs176708 | chrX | 128769658 | 129563826 | nsv528290 | 129277887 | 129277888 | G | G/T | + | intron | 0.522195,0.477805, | 19592680 | SNP array | AIFM1 | rs5977212 | chrX | 128769658 | 129563826 | nsv528290 | 129277963 | 129277964 | A | A/C | + | intron | 0.980048,0.019952, | 19592680 | SNP array | AIFM1 | rs7050171 | chrX | 128769658 | 129563826 | nsv528290 | 129278201 | 129278202 | C | C/G | + | intron | 0.989401,0.010599, | 19592680 | SNP array | AIFM1 | rs73225599 | chrX | 128769658 | 129563826 | nsv528290 | 129279022 | 129279023 | C | C/T | + | intron | 0.975816,0.024184, | 19592680 | SNP array | AIFM1 | rs12559753 | chrX | 128769658 | 129563826 | nsv528290 | 129279647 | 129279648 | C | C/T | + | intron | 0.922356,0.077644, | 19592680 | SNP array | AIFM1 | rs210001 | chrX | 128769658 | 129563826 | nsv528290 | 129280279 | 129280280 | G | A/G | + | intron | 0.431184,0.568816, | 19592680 | SNP array | AIFM1 | rs210002 | chrX | 128769658 | 129563826 | nsv528290 | 129280719 | 129280720 | A | A/G | + | intron | 0.014127,0.532543,0.00328 | 19592680 | SNP array | AIFM1 | rs210003 | chrX | 128769658 | 129563826 | nsv528290 | 129280767 | 129280768 | C | C/T | + | intron | 0.536552,0.463448, | 19592680 | SNP array | AIFM1 | rs61730894 | chrX | 128769658 | 129563826 | nsv528290 | 129281845 | 129281846 | C | C/T | + | intron,missense | 0.987179,0.012820, | 19592680 | SNP array | AIFM1 | rs149692850 | chrX | 128769658 | 129563826 | nsv528290 | 129281937 | 129281938 | G | A/G | + | intron | 0.010278,0.989722, | 19592680 | SNP array | AIFM1 | rs210004 | chrX | 128769658 | 129563826 | nsv528290 | 129282230 | 129282231 | C | C/T | + | intron | 0.014369,0.552313,0.43331 | 19592680 | SNP array | AIFM1 | rs188337 | chrX | 128769658 | 129563826 | nsv528290 | 129282582 | 129282583 | C | C/T | + | intron | 0.571687,0.428313, | 19592680 | SNP array | AIFM1 | rs187065966 | chrX | 128769658 | 129563826 | nsv528290 | 129282803 | 129282804 | A | A/G | + | intron | 0.983071,0.016929, | 19592680 | SNP array | AIFM1 | rs142298610 | chrX | 128769658 | 129563826 | nsv528290 | 129282999 | 129283000 | G | G/T | + | intron | 0.980048,0.019952, | 19592680 | SNP array | AIFM1 | rs35075538 | chrX | 128769658 | 129563826 | nsv528290 | 129283124 | 129283125 | G | A/G | + | intron | 0.445247,0.554753, | 19592680 | SNP array | AIFM1 | rs1139851 | chrX | 128769658 | 129563826 | nsv528290 | 129283519 | 129283520 | A | C/T | - | coding-synon,intron | 0.003894,0.503717,0.49238 | 19592680 | SNP array | AIFM1 | rs150442514 | chrX | 128769658 | 129563826 | nsv528290 | 129283660 | 129283661 | T | C/T | + | intron | 0.016324,0.983676, | 19592680 | SNP array | AIFM1 | rs3213522 | chrX | 128769658 | 129563826 | nsv528290 | 129283785 | 129283786 | A | A/G | + | intron | 0.528537,0.471463, | 19592680 | SNP array | AIFM1 | rs7058548 | chrX | 128769658 | 129563826 | nsv528290 | 129284395 | 129284396 | T | C/T | + | intron | 0.082126,0.917874, | 19592680 | SNP array | AIFM1 | rs149201346 | chrX | 128769658 | 129563826 | nsv528290 | 129284727 | 129284728 | C | C/G | + | intron | 0.980048,0.019952, | 19592680 | SNP array | AIFM1 | rs191687618 | chrX | 128769658 | 129563826 | nsv528290 | 129285138 | 129285139 | G | A/G | + | intron | 0.016929,0.983071, | 19592680 | SNP array | AIFM1 | rs209535 | chrX | 128769658 | 129563826 | nsv528290 | 129285408 | 129285409 | C | C/T | + | intron | 0.557160,0.442840, | 19592680 | SNP array | AIFM1 | rs144561581 | chrX | 128769658 | 129563826 | nsv528290 | 129286649 | 129286650 | G | A/G | + | intron | 0.019952,0.980048, | 19592680 | SNP array | AIFM1 | rs209536 | chrX | 128769658 | 129563826 | nsv528290 | 129286718 | 129286719 | C | A/C | + | intron | 1.000000,0.000000, | 19592680 | SNP array | AIFM1 | rs150754260 | chrX | 128769658 | 129563826 | nsv528290 | 129286854 | 129286855 | C | C/T | + | intron | 0.983071,0.016929, | 19592680 | SNP array | AIFM1 | rs209537 | chrX | 128769658 | 129563826 | nsv528290 | 129287125 | 129287126 | A | A/G | + | intron | 0.528597,0.471403, | 19592680 | SNP array | AIFM1 | rs188222453 | chrX | 128769658 | 129563826 | nsv528290 | 129287322 | 129287323 | G | A/G | + | intron | 0.010883,0.989117, | 19592680 | SNP array | AIFM1 | rs5932720 | chrX | 128769658 | 129563826 | nsv528290 | 129287515 | 129287516 | C | C/G | + | intron | 0.913693,0.086307, | 19592680 | SNP array | AIFM1 | rs147876553 | chrX | 128769658 | 129563826 | nsv528290 | 129288673 | 129288674 | C | C/G | + | intron | 0.976421,0.023579, | 19592680 | SNP array | AIFM1 | rs148519394 | chrX | 128769658 | 129563826 | nsv528290 | 129289011 | 129289012 | A | A/G | + | intron | 0.989117,0.010883, | 19592680 | SNP array | AIFM1 | rs77468639 | chrX | 128769658 | 129563826 | nsv528290 | 129289945 | 129289945 | - | -/C/T | + | intron | 0.000000,1.000000, | 19592680 | SNP array | AIFM1 | rs57695061 | chrX | 128769658 | 129563826 | nsv528290 | 129289946 | 129289946 | - | -/C | + | intron | 0.000000,1.000000, | 19592680 | SNP array | AIFM1 | rs189994 | chrX | 128769658 | 129563826 | nsv528290 | 129290698 | 129290699 | T | C/T | + | intron | 0.015760,0.007372,0.45780 | 19592680 | SNP array | AIFM1 | rs5977215 | chrX | 128769658 | 129563826 | nsv528290 | 129290753 | 129290754 | C | C/T | + | intron | 0.033060,0.891850,0.07509 | 19592680 | SNP array | AIFM1 | rs5977216 | chrX | 128769658 | 129563826 | nsv528290 | 129291183 | 129291184 | G | A/G | + | intron | 0.030817,0.456761,0.51242 | 19592680 | SNP array | AIFM1 | rs523234 | chrX | 128769658 | 129563826 | nsv528290 | 129291710 | 129291711 | T | A/G | - | intron | 0.545783,0.454217, | 19592680 | SNP array | AIFM1 | rs694727 | chrX | 128769658 | 129563826 | nsv528290 | 129292983 | 129292984 | A | A/T | + | intron | 0.556518,0.443482, | 19592680 | SNP array | AIFM1 | rs12390789 | chrX | 128769658 | 129563826 | nsv528290 | 129293096 | 129293097 | C | C/T | + | intron | 0.983543,0.016457, | 19592680 | SNP array | AIFM1 | rs396278 | chrX | 128769658 | 129563826 | nsv528290 | 129293760 | 129293761 | T | C/T | + | intron | 0.011439,0.432793,0.55576 | 19592680 | SNP array | AIFM1 | rs496225 | chrX | 128769658 | 129563826 | nsv528290 | 129293897 | 129293898 | C | C/G | + | intron | 0.545509,0.454491, | 19592680 | SNP array | AIFM1 | rs5930380 | chrX | 128769658 | 129563826 | nsv528290 | 129294301 | 129294302 | T | C/T | + | intron | 0.030766,0.450990,0.51824 | 19592680 | SNP array | AIFM1 | rs191310973 | chrX | 128769658 | 129563826 | nsv528290 | 129295376 | 129295377 | C | C/T | + | intron | 0.984885,0.015115, | 19592680 | SNP array | AIFM1 | rs634483 | chrX | 128769658 | 129563826 | nsv528290 | 129295498 | 129295499 | A | G/T | - | intron | 0.048972,0.951028, | 19592680 | SNP array | AIFM1 | rs142885842 | chrX | 128769658 | 129563826 | nsv528290 | 129295779 | 129295780 | C | C/T | + | intron | 0.974002,0.025998, | 19592680 | SNP array | AIFM1 | rs23963 | chrX | 128769658 | 129563826 | nsv528290 | 129296393 | 129296394 | T | A/G | - | intron | 0.038258,0.510256,0.45148 | 19592680 | SNP array | AIFM1 | rs23962 | chrX | 128769658 | 129563826 | nsv528290 | 129296413 | 129296414 | G | C/G | - | intron | 0.050814,0.506189,0.44299 | 19592680 | SNP array | AIFM1 | rs5975174 | chrX | 128769658 | 129563826 | nsv528290 | 129296593 | 129296594 | T | A/T | + | intron | 0.018146,0.981854, | 19592680 | SNP array | AIFM1 | rs209543 | chrX | 128769658 | 129563826 | nsv528290 | 129296706 | 129296707 | C | A/G | - | intron | 0.480088,0.519912, | 19592680 | SNP array | AIFM1 | rs146843672 | chrX | 128769658 | 129563826 | nsv528290 | 129297109 | 129297110 | C | C/T | + | intron | 0.987908,0.012092, | 19592680 | SNP array | AIFM1 | rs209542 | chrX | 128769658 | 129563826 | nsv528290 | 129297274 | 129297275 | C | A/G | - | intron | 0.466554,0.533446, | 19592680 | SNP array | AIFM1 | rs58436038 | chrX | 128769658 | 129563826 | nsv528290 | 129297410 | 129297411 | C | A/C | + | intron | 0.022947,0.977053, | 19592680 | SNP array | AIFM1 | rs141106030 | chrX | 128769658 | 129563826 | nsv528290 | 129297832 | 129297833 | A | A/G | + | intron | 0.986699,0.013301, | 19592680 | SNP array | AIFM1 | rs209541 | chrX | 128769658 | 129563826 | nsv528290 | 129297857 | 129297858 | G | C/T | - | intron | 0.556024,0.443976, | 19592680 | SNP array | AIFM1 | rs209540 | chrX | 128769658 | 129563826 | nsv528290 | 129298138 | 129298139 | C | A/G | - | intron | 0.435542,0.564458, | 19592680 | SNP array | AIFM1 | rs147411389 | chrX | 128769658 | 129563826 | nsv528290 | 129299131 | 129299132 | G | A/G | + | intron | 0.010278,0.989722, | 19592680 | SNP array | CYBB | rs35851882 | chrX | 37654738 | 37658186 | esv3573862 | 37654945 | 37654946 | C | C/T | + | intron | 0.010857,0.952000,0.03714 | 25503493 | SNP array | CYBB | rs35578419 | chrX | 37654738 | 37658186 | esv3573862 | 37655021 | 37655022 | A | A/G | + | intron | 0.010870,0.988558,0.00057 | 25503493 | SNP array | CYBB | rs35959988 | chrX | 37654738 | 37658186 | esv3573862 | 37655654 | 37655655 | A | A/C | + | intron | 0.010870,0.951945,0.03718 | 25503493 | SNP array | CYBB | rs35574346 | chrX | 37654738 | 37658186 | esv3573862 | 37655735 | 37655739 | AAAC | -/AAAC | + | intron | 0.163043,0.836957, | 25503493 | SNP array | CYBB | rs199704403 | chrX | 37654738 | 37658186 | esv3573862 | 37655740 | 37655744 | AACC | -/AACC | + | intron | 0.123942,0.876058, | 25503493 | SNP array | CYBB | rs200800216 | chrX | 37654738 | 37658186 | esv3573862 | 37655802 | 37655804 | TT | -/TT | + | intron | 0.010278,0.989722, | 25503493 | SNP array | CYBB | rs139892460 | chrX | 37654738 | 37658186 | esv3573862 | 37656565 | 37656566 | C | C/T | + | intron | 0.986094,0.013906, | 25503493 | SNP array | CYBB | rs34052166 | chrX | 37654738 | 37658186 | esv3573862 | 37657891 | 37657892 | T | A/T | + | intron | 0.010857,0.037143,0.95200 | 25503493 | SNP array | CYBB | rs34602937 | chrX | 37654738 | 37658186 | esv3573862 | 37657911 | 37657912 | T | G/T | + | intron | 0.010857,0.006857,0.98228 | 25503493 | SNP array | CYBB | rs35015762 | chrX | 37654738 | 37658186 | esv3573862 | 37658061 | 37658062 | A | A/G | + | intron | 0.008426,0.983149,0.00842 | 25503493 | SNP array |