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
ABCB1	chr 7	87160617	87160618	rs2032582	-	A	A/G/T	missense	32	1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,CCHMC-CAE-PGCORE,CGM_KYOTO,CLINSEQ_SNP,CNG,COMPLETE_GENOMI	4	0.004485
ABCB1	chr 7	87138658	87138659	rs2229107	-	A	A/T	missense	17	1000GENOMES,AFFY,CCHMC-CAE-PGCORE,CORNELL,EGP_SNPS,EXOME_CHIP,GSK-GENETICS,ILLUMINA,ILLUMINA-UK,KRIB	2	0.033804
ABCB1	chr 7	87179808	87179809	rs2229109	-	C	A/G/T	missense	20	1000GENOMES,AFFY,CCHMC-CAE-PGCORE,CGM_KYOTO,CLINSEQ_SNP,CNG,CORNELL,EGP_SNPS,EXOME_CHIP,GSK-GENETICS	2	0.025747
ABCB1	chr 7	87229439	87229440	rs9282564	-	T	A/G	missense	24	1000GENOMES,ABI,AFFY,BL,CCHMC-CAE-PGCORE,CGM_KYOTO,CLINSEQ_SNP,CNG,CORNELL,EGP_SNPS,EXOME_CHIP,GSK-G	2	0.94018
ABCC1	chr 16	16208682	16208683	rs13337489	+	G	C/G	missense	14	1000GENOMES,AFFY,BCM_SSAHASNP,CORNELL,EGP_SNPS,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PH	2	0.022848
ABCC1	chr 16	16228248	16228249	rs28364006	+	A	A/G	missense	2	ILLUMINA,PHARMGKB_PHAT,	2	0.28
ABCC1	chr 16	16205324	16205325	rs35529209	+	G	A/G	missense	3	EXOME_CHIP,NHLBI-ESP,PHARMGKB_PMT,	2	0.041667
ABCC1	chr 16	16177274	16177275	rs4148356	+	G	A/G	missense	15	1000GENOMES,AFFY,CLINSEQ_SNP,CORNELL,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_AB	2	0.023353
ABCC1	chr 16	16173231	16173232	rs45511401	+	G	G/T	missense	10	1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SNPS,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,SEATTL	2	0.966689
ABCC2	chr 10	101567856	101567857	rs17216233	+	T	G/T	missense	1	PHARMGKB_PMT,	2	0.01087
ABCC2	chr 10	101604106	101604107	rs17216317	+	C	C/T	missense	11	1000GENOMES,AFFY,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,PHARMGKB_PMT,SNP5	2	0.988219
ABCC2	chr 10	101578951	101578952	rs17222617	+	T	G/T	missense	6	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PMT,	2	0.011062
ABCC2	chr 10	101595995	101595996	rs17222723	+	T	A/T	missense	17	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,PHAR	2	0.056614
ABCC2	chr 10	101563814	101563815	rs2273697	+	G	A/G	missense	23	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,CNG,CSHL-HAPMAP,EXOME_CHIP,GMI,ILLUMINA,KR	4	0.18339
ABCC2	chr 10	101560168	101560169	rs7080681	+	G	A/G	missense	13	1000GENOMES,AFFY,APPLERA_GI,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-E	2	0.019804
ABCC2	chr 10	101595974	101595975	rs8187692	+	G	A/G/T	missense	13	1000GENOMES,APPLERA_GI,COMPLETE_GENOMICS,CSHL-HAPMAP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB	2	0.964673
ABCC2	chr 10	101611293	101611294	rs8187710	+	G	A/G	missense	16	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEG	2	0.248155
ALDH1L1	chr 3	125854408	125854409	rs2276724	-	T	A/G	ncRNA,missense	22	1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,E	2	0.850019
ALDH1L1	chr 3	125865765	125865766	rs2886059	-	C	G/T	ncRNA,missense	25	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,COR	3	0.77148
ALDH1L1	chr 3	125872383	125872384	rs3796191	+	A	A/G	ncRNA,missense	10	1000GENOMES,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,RIKENSNPRC,SEATTLESEQ,YUSU	2	0.945073
ALDH1L1	chr 3	125855664	125855665	rs9282691	-	T	A/C	ncRNA,missense	14	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,	2	0.93457
AMPD1	chr 1	115222236	115222237	rs34526199	+	T	A/T	missense	8	1000GENOMES,APPLERA_GI,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SI_EXO,	2	0.021749
AMPD1	chr 1	115231253	115231254	rs61752479	+	G	A/G	missense	7	1000GENOMES,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP,	2	0.086964
ATIC	chr 2	216190019	216190020	rs2372536	+	C	C/G	missense	22	1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,	2	0.763034
ATIC	chr 2	216211571	216211572	rs56117859	+	C	C/T	missense	8	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,	2	0.970398
BHMT	chr 5	78421958	78421959	rs3733890	+	G	A/G	missense	27	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,	3	0.284695
CBS	chr 21	44488630	44488631	rs34040148	-	T	A/C	missense	7	1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF,	2	0.985013
CD320	chr 19	8373151	8373152	rs2232775	-	T	A/G	missense	13	1000GENOMES,APPLERA_GI,BGI,BL,BUSHMAN,EXOME_CHIP,GENAISSANCE,ILLUMINA,LEE,NHLBI-ESP,SEATTLESEQ,SSMP,	2	0.852394
CD320	chr 19	8367426	8367427	rs2232786	-	C	A/G	missense	9	1000GENOMES,APPLERA_GI,CGAP-GAI,EXOME_CHIP,GENAISSANCE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,	2	0.016423
CD320	chr 19	8367708	8367709	rs2336573	+	C	C/T	missense	17	1000GENOMES,ABI,BCM_SSAHASNP,BGI,CLINSEQ_SNP,CORNELL,CSHL-HAPMAP,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRI	2	0.867804
CUBN	chr 10	16893331	16893332	rs111265129	+	T	C/T	missense	6	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.015755
CUBN	chr 10	16957050	16957051	rs11254274	+	C	C/T	missense	4	ILLUMINA,NHLBI-ESP,PERLEGEN,SC_SNP,	2	0.987879
CUBN	chr 10	17171175	17171176	rs12259370	+	C	C/T	missense	10	1000GENOMES,AFFY,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,	2	0.968623
CUBN	chr 10	17156150	17156151	rs1801222	-	A	C/T	missense	30	1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_	4	0.005167
CUBN	chr 10	17147520	17147521	rs1801224	-	G	A/C/G	missense	30	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPM	4	0.468926
CUBN	chr 10	16877109	16877110	rs1801230	-	G	C/T	missense	11	1000GENOMES,AFFY,BCMHGSC_JDW,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,RSG_J	2	0.981828
CUBN	chr 10	17024502	17024503	rs1801231	-	G	C/T	missense	29	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPM	2	0.315809
CUBN	chr 10	16932489	16932490	rs1801238	-	G	A/C	missense	10	1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,SEQUENOM,WICVAR,	2	0.022789
CUBN	chr 10	16919051	16919052	rs1801239	-	T	A/G	missense	14	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-	2	0.929549
CUBN	chr 10	16918996	16918997	rs1801240	-	T	A/G	missense	13	1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,RSG_JCVI,SEAT	2	0.877825
CUBN	chr 10	16961994	16961995	rs2271460	+	A	A/C	missense	11	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,YUSUKE,	2	0.983847
CUBN	chr 10	16982060	16982061	rs2271462	+	C	C/T	missense	15	1000GENOMES,AFFY,BGI,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,SI_EXO	2	0.91485
CUBN	chr 10	16979605	16979606	rs2356590	+	G	G/T	missense	14	1000GENOMES,ABI,AFFY,BGI,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SI_EXO,S	2	0.95257
CUBN	chr 10	16948389	16948390	rs3740168	-	G	C/G	missense	12	1000GENOMES,ABI,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF,YUSU	2	0.973781
CUBN	chr 10	16979713	16979714	rs41289305	+	T	C/T	missense	13	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,RSG_J	2	0.126287
CUBN	chr 10	16930418	16930419	rs45569534	+	C	C/G	missense	6	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,RSG_JCVI,	2	0.98494
CUBN	chr 10	17087007	17087008	rs45588636	+	C	A/C	missense	2	ILLUMINA,RSG_JCVI,	2	0.025
CUBN	chr 10	16967585	16967586	rs62619939	+	C	C/G	missense	12	1000GENOMES,APPLERA_GI,BL,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SEATTLESEQ	2	0.877768
CUBN	chr 10	16989270	16989271	rs74116778	+	C	C/T	missense	8	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.941283
CUBN	chr 10	17171655	17171656	rs76788243	+	T	G/T	missense	7	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.04262

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