Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
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AIFM1 | chrX | 129299131 | 129299132 | rs147411389 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010278 |
CYBB | chrX | 37639746 | 37639747 | rs34798967 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,RSG_UW, | 3 | 0.007871 |
CYBB | chrX | 37640004 | 37640004 | rs199646090 | + | - | -/TCTA | insertion | intron | 1 | 1000GENOMES, | 2 | 0.870012 |
CYBB | chrX | 37640196 | 37640197 | rs140037852 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.954655 |
CYBB | chrX | 37640744 | 37640745 | rs10442522 | + | T | C/T | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.010883 |
CYBB | chrX | 37640952 | 37640952 | rs199659333 | + | - | -/G | insertion | intron | 1 | 1000GENOMES, | 2 | 0.967956 |
CYBB | chrX | 37640953 | 37640953 | rs200718778 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.967956 |
CYBB | chrX | 37640954 | 37640954 | rs35508209 | + | - | -/T | insertion | intron | 2 | RSG_UW,TISHKOFF, | 3 | 0.869048 |
CYBB | chrX | 37641483 | 37641484 | rs7059081 | + | C | C/G | single | intron | 9 | 1000GENOMES,AFFY,BCM_SSAHASNP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,RSG_UW,SNP500CANCER, | 3 | 0.005419 |
CYBB | chrX | 37641525 | 37641526 | rs4422908 | + | C | A/C | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,GMI,HGSV,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,KRIBB_YJKIM,PJP,RSG_UW,SC_JCM,SC_SNP,SNP500CANCER,SSMP,TISHKOFF, | 3 | 0.027660 |
CYBB | chrX | 37641933 | 37641934 | rs35433602 | + | G | A/G | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.010357 |
CYBB | chrX | 37642404 | 37642405 | rs4595265 | + | G | G/T | single | intron | 11 | 1000GENOMES,ABI,BGI,DEVINE_LAB,GMI,ILLUMINA,KRIBB_YJKIM,RSG_UW,SC_JCM,SC_SNP,SSMP, | 3 | 0.005102 |
CYBB | chrX | 37642602 | 37642603 | rs35687444 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37642901 | 37642902 | rs6610661 | + | A | A/G | single | intron | 8 | 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,RSG_UW,SC_SNP,SNP500CANCER, | 3 | 0.005994 |
CYBB | chrX | 37643241 | 37643242 | rs34556495 | + | T | G/T | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.009759 |
CYBB | chrX | 37643378 | 37643379 | rs6417871 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.006356 |
CYBB | chrX | 37643667 | 37643668 | rs6651773 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BGI,CSHL-HAPMAP,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.822430 |
CYBB | chrX | 37643953 | 37643954 | rs73632406 | + | T | A/T | single | intron | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.035024 |
CYBB | chrX | 37643954 | 37643954 | rs202233517 | + | - | -/A | insertion | intron | 1 | 1000GENOMES, | 2 | 0.971584 |
CYBB | chrX | 37644424 | 37644425 | rs6520785 | + | C | C/G | single | intron | 13 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.010471 |
CYBB | chrX | 37644605 | 37644606 | rs17312212 | + | A | A/G | single | intron | 5 | 1000GENOMES,CSHL-HAPMAP,ILLUMINA,PERLEGEN,SSMP, | 3 | 0.010407 |
CYBB | chrX | 37644711 | 37644712 | rs140248108 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.017533 |
CYBB | chrX | 37645375 | 37645376 | rs151166183 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.017533 |
CYBB | chrX | 37645726 | 37645727 | rs5964099 | + | T | C/T | single | intron | 15 | 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 3 | 0.006086 |
CYBB | chrX | 37645884 | 37645885 | rs17146226 | + | G | A/G | single | intron | 3 | 1000GENOMES,PERLEGEN,TISHKOFF, | 3 | 0.010870 |
CYBB | chrX | 37647861 | 37647862 | rs140504495 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.012092 |
CYBB | chrX | 37647941 | 37647942 | rs143681625 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.010883 |
CYBB | chrX | 37648572 | 37648574 | rs112829288 | + | AG | -/AG | deletion | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.059179 |
CYBB | chrX | 37648843 | 37648844 | rs148107944 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.012092 |
CYBB | chrX | 37648892 | 37648892 | rs78961174 | + | - | -/A | insertion | intron | 3 | 1000GENOMES,BGI,GMI, | 2 | 0.842201 |
CYBB | chrX | 37648972 | 37648973 | rs5964107 | + | G | A/G | single | intron | 10 | 1000GENOMES,BGI,BUSHMAN,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_SNP,SSMP, | 2 | 0.329960 |
CYBB | chrX | 37649934 | 37649935 | rs17146228 | + | G | G/T | single | intron | 2 | 1000GENOMES,PERLEGEN, | 3 | 0.010840 |
CYBB | chrX | 37650439 | 37650440 | rs138587474 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.957074 |
CYBB | chrX | 37650692 | 37650693 | rs34019674 | + | G | A/G | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010333 |
CYBB | chrX | 37650758 | 37650759 | rs17146231 | + | T | A/T | single | intron | 3 | 1000GENOMES,PERLEGEN,RSG_UW, | 3 | 0.018519 |
CYBB | chrX | 37650904 | 37650905 | rs34077421 | + | A | A/C | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.010297 |
CYBB | chrX | 37651008 | 37651009 | rs35840291 | + | T | C/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37651468 | 37651469 | rs35651685 | + | T | A/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010907 |
CYBB | chrX | 37651662 | 37651663 | rs4827298 | + | T | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,PERLEGEN,PJP,RSG_UW,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.018583 |
CYBB | chrX | 37651718 | 37651719 | rs5964113 | + | G | A/G | single | intron | 5 | 1000GENOMES,ILLUMINA,RSG_UW,SC_SNP,TISHKOFF, | 3 | 0.008829 |
CYBB | chrX | 37652517 | 37652518 | rs5917471 | + | C | C/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,RSG_UW,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.011189 |
CYBB | chrX | 37652613 | 37652614 | rs34097325 | + | A | A/G | single | intron | 5 | 1000GENOMES,ABI,ENSEMBL,ILLUMINA,RSG_UW, | 3 | 0.010845 |
CYBB | chrX | 37653140 | 37653141 | rs6610669 | + | C | C/T | single | intron | 9 | 1000GENOMES,BGI,GMI,PERLEGEN,RSG_UW,SC_SNP,SI_EXO,SSMP,TISHKOFF, | 3 | 0.022222 |
CYBB | chrX | 37653142 | 37653143 | rs35337171 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.202128 |
CYBB | chrX | 37653266 | 37653267 | rs17146242 | + | T | C/T | single | intron | 3 | 1000GENOMES,PERLEGEN,RSG_UW, | 3 | 0.018993 |
CYBB | chrX | 37654135 | 37654136 | rs12014060 | + | T | C/T | single | intron | 11 | 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.165865 |
CYBB | chrX | 37654251 | 37654252 | rs112306617 | + | T | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.015710 |
CYBB | chrX | 37654359 | 37654360 | rs3935493 | - | C | C/G | single | intron | 5 | 1000GENOMES,AFFY,KRIBB_YJKIM,PERLEGEN,TSC-CSHL, | 3 | 0.015556 |
CYBB | chrX | 37654945 | 37654946 | rs35851882 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010857 |
CYBB | chrX | 37655021 | 37655022 | rs35578419 | + | A | A/G | single | intron | 3 | 1000GENOMES,GMI,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37655654 | 37655655 | rs35959988 | + | A | A/C | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010870 |
CYBB | chrX | 37655735 | 37655739 | rs35574346 | + | AAAC | -/AAAC | deletion | intron | 3 | GMI,RSG_UW,SSMP, | 2 | 0.163043 |
CYBB | chrX | 37655740 | 37655744 | rs199704403 | + | AACC | -/AACC | deletion | intron | 1 | 1000GENOMES, | 2 | 0.123942 |
CYBB | chrX | 37655802 | 37655804 | rs200800216 | + | TT | -/TT | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.010278 |
CYBB | chrX | 37656565 | 37656566 | rs139892460 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.986094 |
CYBB | chrX | 37657891 | 37657892 | rs34052166 | + | T | A/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010857 |
CYBB | chrX | 37657911 | 37657912 | rs34602937 | + | T | G/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.010857 |
CYBB | chrX | 37658061 | 37658062 | rs35015762 | + | A | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,RSG_UW, | 3 | 0.008426 |
CYBB | chrX | 37658388 | 37658389 | rs34065977 | + | C | C/T | single | intron | 7 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,RSG_UW,SNP500CANCER, | 3 | 0.008197 |
CYBB | chrX | 37658454 | 37658455 | rs5964125 | + | A | A/G | single | intron | 14 | 1000GENOMES,ABI,BGI,CSHL-HAPMAP,ENSEMBL,GMI,IMCJ-GDT,PERLEGEN,RSG_UW,SC_SNP,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF, | 3 | 0.015566 |
CYBB | chrX | 37658724 | 37658725 | rs35037870 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,RSG_UW, | 3 | 0.008821 |
CYBB | chrX | 37658746 | 37658747 | rs147083599 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.012696 |
CYBB | chrX | 37659055 | 37659056 | rs5963309 | + | A | A/G | single | intron | 11 | 1000GENOMES,AFFY,BGI,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,RSG_UW,SC_SNP,SSMP,TISHKOFF, | 3 | 0.034033 |
CYBB | chrX | 37659252 | 37659253 | rs73632407 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.966184 |
CYBB | chrX | 37659561 | 37659562 | rs5963310 | + | T | A/T | single | intron | 13 | 1000GENOMES,ABI,AFFY,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA-UK,PERLEGEN,SC_SNP,SSMP,TISHKOFF, | 3 | 0.017703 |
CYBB | chrX | 37660049 | 37660050 | rs144619445 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.012092 |
CYBB | chrX | 37660209 | 37660210 | rs113353909 | + | T | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.027190 |
CYBB | chrX | 37660427 | 37660428 | rs35670962 | + | T | G/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.009748 |
CYBB | chrX | 37660876 | 37660877 | rs191514138 | + | G | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.968561 |
CYBB | chrX | 37660918 | 37660919 | rs35839491 | + | G | A/G | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.008631 |
CYBB | chrX | 37660941 | 37660942 | rs35316892 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.008631 |
CYBB | chrX | 37661362 | 37661363 | rs34876447 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37661417 | 37661418 | rs34189524 | + | T | C/T | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.010870 |
CYBB | chrX | 37661444 | 37661445 | rs34090774 | + | G | A/G | single | intron | 5 | 1000GENOMES,HGSV,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010857 |
CYBB | chrX | 37662276 | 37662277 | rs139887290 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.033253 |
CYBB | chrX | 37662368 | 37662369 | rs17146255 | + | C | C/T | single | intron | 6 | 1000GENOMES,BGI,GMI,PERLEGEN,SSMP,TISHKOFF, | 3 | 0.010840 |
CYBB | chrX | 37662577 | 37662579 | rs201808383 | + | CT | -/CT | deletion | intron | 1 | 1000GENOMES, | 2 | 0.033253 |
CYBB | chrX | 37664107 | 37664108 | rs35724386 | + | C | C/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010321 |
CYBB | chrX | 37664439 | 37664440 | rs34834015 | + | C | C/G/T | single | intron | 10 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORRELAGEN,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,RSG_UW,SNP500CANCER,TISHKOFF, | 4 | 0.009130 |
CYBB | chrX | 37664787 | 37664788 | rs34406087 | + | T | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010321 |
CYBB | chrX | 37664810 | 37664811 | rs35773320 | + | A | A/G | single | intron | 6 | 1000GENOMES,BGI,GMI,RSG_UW,SSMP,TISHKOFF, | 3 | 0.010333 |
CYBB | chrX | 37664839 | 37664840 | rs34697490 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.010333 |
CYBB | chrX | 37664977 | 37664978 | rs12011274 | + | A | A/G | single | intron | 6 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,ILLUMINA,RSG_UW, | 3 | 0.008507 |
CYBB | chrX | 37665299 | 37665300 | rs35629501 | + | A | A/G | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.009748 |
CYBB | chrX | 37665813 | 37665814 | rs35385341 | + | C | C/T | single | intron | 3 | 1000GENOMES,NHLBI-ESP,RSG_UW, | 3 | 0.010309 |
CYBB | chrX | 37665981 | 37665982 | rs34571491 | + | C | C/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.010857 |
CYBB | chrX | 37666130 | 37666131 | rs5964146 | + | G | C/G | single | intron | 8 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,RSG_UW,SC_SNP,TISHKOFF, | 3 | 0.010814 |
CYBB | chrX | 37666145 | 37666145 | rs200426524 | + | - | -/TC | insertion | intron | 1 | 1000GENOMES, | 2 | 0.890568 |
CYBB | chrX | 37666150 | 37666151 | rs72619429 | + | G | C/G | single | intron | 4 | 1000GENOMES,BGI,GMI,TISHKOFF, | 2 | 0.123337 |
CYBB | chrX | 37666244 | 37666245 | rs12848910 | + | A | A/G | single | intron | 8 | 1000GENOMES,ABI,ENSEMBL,ILLUMINA,PERLEGEN,PJP,RSG_UW,SSAHASNP, | 3 | 0.047876 |
CYBB | chrX | 37667430 | 37667431 | rs7886998 | + | T | C/T | single | intron | 8 | 1000GENOMES,BGI,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.159420 |
CYBB | chrX | 37669693 | 37669694 | rs5964149 | + | A | A/G | single | intron | 16 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KYUGEN,PERLEGEN,RSG_UW,SC_SNP,SNP500CANCER,SSMP,TISHKOFF, | 3 | 0.010017 |
CYBB | chrX | 37669698 | 37669699 | rs28667482 | + | G | G/T | single | intron | 6 | 1000GENOMES,BUSHMAN,RSG_UW,SNP500CANCER,SSAHASNP,TISHKOFF, | 3 | 0.009157 |