Folate Missence Mutation Data

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Gene Symbol	Chromosome	Start	End	rs ID	Strand	NCBI ref	Observed	Function	Submitter Count	Submitter	Frequency Count	Allele Frequency
MTHFR	chr 1	11848067	11848068	rs1537514	-	G	C/G	missense,untran	13	1000GENOMES,ABI,CLINSEQ_SNP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SI_EXO,SNP500CANCER,SSMP,TISHKOFF	2	0.871519
MTHFR	chr 1	11854475	11854476	rs1801131	-	T	A/C	missense	25	1000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXO	4	0.722351
MTHFR	chr 1	11856377	11856378	rs1801133	-	G	C/T	missense	33	1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE	2	0.719393
MTHFR	chr 1	11850926	11850927	rs2274976	-	C	A/G	missense	17	1000GENOMES,AFFY,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,IMCJ-GDT,KRIBB_YJ	2	0.050935
MTHFR	chr 1	11850749	11850750	rs35737219	+	G	A/G	missense	9	1000GENOMES,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,	2	0.017006
MTHFR	chr 1	11847448	11847449	rs3737967	-	G	C/T	missense,untran	6	1000GENOMES,CLINSEQ_SNP,GMI,ILLUMINA,SSMP,YUSUKE,	2	0.94897
MTHFR	chr 1	11854473	11854474	rs72552099	-	T	A/C	missense	1	PHARMGKB_PPII,	2	0.67314
MTHFR	chr 1	11849446	11849447	rs868014	-	A	C/T	missense,untran	22	1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,E	2	0.945596
MTHFS	chr 15	80137559	80137560	rs8923	-	T	A/G	ncRNA,missense	23	1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HG	2	0.928826
MTR	chr 1	237048499	237048500	rs1805087	+	A	A/G	missense	26	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL,	2	0.786029
MTR	chr 1	236990140	236990141	rs2229274	+	G	A/G	missense	7	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,WICVAR,	2	0.019348
MTR	chr 1	237058742	237058743	rs61736326	+	G	A/G	missense	7	1000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.017925
MTR	chr 1	236966877	236966878	rs61736442	+	C	C/T	missense	1	CORNELL,	2	0.987179
MTR	chr 1	237060371	237060372	rs61739582	+	A	A/G	missense	8	1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.980419
MTRR	chr 5	7885906	7885907	rs10064631	+	C	C/G	missense	12	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,SEA	2	0.947887
MTRR	chr 5	7897190	7897191	rs10380	+	C	C/T	missense	25	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUM	2	0.811339
MTRR	chr 5	7878178	7878179	rs1532268	-	C	A/G	missense	27	1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL	2	0.295599
MTRR	chr 5	7885958	7885959	rs162036	+	A	A/G	missense	23	1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMAN	2	0.774035
MTRR	chr 5	7891505	7891506	rs16879334	+	C	C/G	missense	11	1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,	2	0.9567
MTRR	chr 5	7889303	7889304	rs2287780	+	C	C/T	missense	16	1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,	2	0.95005
MTRR	chr 5	7878423	7878424	rs2303080	+	T	A/T	missense	13	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEA	2	0.03061
SARDH	chr 9	136597581	136597582	rs146886270	+	T	C/T	missense	4	1000GENOMES,EXOME_CHIP,NHLBI-ESP,TISHKOFF,	2	0.010702
SARDH	chr 9	136559459	136559460	rs2073817	-	C	A/G	missense	19	1000GENOMES,APPLERA_GI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EXOME_CHIP,GMI,HGBASE,ILLUMI	2	0.36085
SARDH	chr 9	136582481	136582482	rs35218200	+	C	A/C	missense	9	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,	2	0.015637
SARDH	chr 9	136599231	136599232	rs35559818	+	C	A/C	missense	8	1000GENOMES,APPLERA_GI,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF,	2	0.017533
SARDH	chr 9	136535745	136535746	rs61685718	+	C	C/T	missense	7	1000GENOMES,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,SEATTLESEQ,	2	0.987319
SARDH	chr 9	136555628	136555629	rs886016	-	T	A/G	missense	27	1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGBA	2	0.469593
SHMT1	chr 17	18232095	18232096	rs1979277	+	G	A/G	missense	27	1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHI	2	0.281109
SHMT2	chr 12	57624700	57624701	rs73338162	+	C	C/T	ncRNA,missense	9	1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.970348
SLC19A1	chr 21	46957793	46957794	rs1051266	-	T	A/G	missense	27	1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GEN	2	0.517813
SLC19A1	chr 21	46950737	46950738	rs199761250	+	T	C/T	missense	1	1000GENOMES,	2	0.016988
SLC19A1	chr 21	46935674	46935675	rs35786590	-	G	C/T	intron,missense	3	APPLERA_GI,ILLUMINA,PERLEGEN,	2	0.928571
SLC19A1	chr 21	46935941	46935942	rs7278825	+	G	A/G	intron,missense	9	1000GENOMES,BCM_SSAHASNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PMT,SEATTLESEQ,SSMP,TISHKOFF,	2	0.012385
SLC25A32	chr 8	104427358	104427359	rs3134295	+	A	A/C	ncRNA,missense,	25	1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HG	2	0.53701
SLC25A32	chr 8	104427540	104427541	rs3134296	+	C	C/T	ncRNA,missense,	23	1000GENOMES,ABI,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI	2	0.817443
SLC46A1	chr 17	26732385	26732386	rs201076728	+	C	C/T	missense	3	CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,	2	0.989
SLC46A1	chr 17	26732943	26732944	rs41297071	-	C	C/G/T	missense	3	EXOME_CHIP,NHLBI-ESP,RSG_UW,	3	0.010526
TCN1	chr 11	59623377	59623378	rs34324219	+	C	A/C	missense	12	1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERL	2	0.085682
TCN1	chr 11	59631534	59631535	rs34528912	+	C	C/T	missense	7	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,	2	0.971403
TCN2	chr 22	31018974	31018975	rs1131603	+	T	C/T	missense	11	1000GENOMES,AFFY,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,SEATTLESEQ,SEQ	2	0.03352
TCN2	chr 22	31013373	31013374	rs117458738	+	C	C/T	missense	5	1000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP,	2	0.989991
TCN2	chr 22	31011609	31011610	rs1801198	+	G	C/G	missense	33	1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HA	2	0.609673
TCN2	chr 22	31011349	31011350	rs35838082	+	C	C/T	missense	14	1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NH	2	0.924748
TCN2	chr 22	31008866	31008867	rs35915865	+	T	C/T	missense	9	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SI_EXO,SSMP,	2	0.010809
TCN2	chr 22	31019043	31019044	rs4820889	+	G	A/G	missense	16	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_S	2	0.055431
TCN2	chr 22	31006859	31006860	rs9606756	+	A	A/G	missense	20	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUM	2	0.884863
TCN2	chr 22	31013418	31013419	rs9621049	+	C	C/T	missense	16	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KR	2	0.882287
TYMS	chr 18	662214	662215	rs11540152	+	T	C/T	missense	3	CGAP-GAI,ILLUMINA,KRIBB_YJKIM,	2	0.087209
TYMS	chr 18	658063	658064	rs2853533	+	G	C/G	intron,missense	15	1000GENOMES,BGI,BUSHMAN,CGAP-GAI,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,SC_J	2	0.316397

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