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Reference SNP (refSNP) Cluster Report: rs1208                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:G=0.3828/45862 (ExAC)
G=0.3229/1617 (1000 Genomes)
G=0.4158/5407 (GO-ESP)
G=0.3851/48353 (TOPMED)
HGVS Names
  • CM000670.2:g.18400806G>A
  • CM000670.2:g.18400806G>T
  • NC_000008.10:g.18258316G=
  • NC_000008.10:g.18258316G>A
  • NC_000008.11:g.18400806G=
  • NC_000008.11:g.18400806G>A
  • NC_000008.11:g.18400806G>T
  • NG_012246.1:g.14562G=
  • NG_012246.1:g.14562G>A
  • NG_012246.1:g.14562G>T
  • NM_000015.2:c.803G=
  • NM_000015.2:c.803G>A
  • NM_000015.2:c.803G>T
  • NP_000006.2:p.Arg268=
  • NP_000006.2:p.Arg268Ile
  • NP_000006.2:p.Arg268Lys
  • XP_016868427.1:p.Arg268=
  • XP_016868427.1:p.Arg268Ile
  • XP_016868427.1:p.Arg268Lys
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss140405883 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1208 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss1233WIAF|WIAF-2120byFreqfwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/23/9904/07/0436Genomicunknown
ss1508882LEE|2125fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/13/0010/10/0386cDNAunknown
ss2323986TSC-CSHL|TSC0734602byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa10/20/0004/07/0488Genomic95 %
ss4403265LEE|e2125fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/26/0210/10/03106cDNAunknown
ss5586793SNP500CANCER|NAT2-01byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/26/0204/07/04113Genomicunknown
ss5655469SC_JCM|NT_030737.4_2084830fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/10/0310/10/03111Genomicunknown
ss6311250RIKENSNPRC|ssj0007793fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/15/0310/10/03111Genomicunknown
ss22662993SSAHASNP|WGSA-200403-chr8.chr8.NT_030737.8_6069237fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa03/21/0403/21/04121Genomicunknown
ss24796685SEQUENOM|sqnm142278byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa06/18/0408/05/04123cDNAunknown
ss28497870MGC_GENOME_DIFF|37552654-G6069237Afwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa08/20/0408/20/04126cDNAunknown
ss28512667MGC_GENOME_DIFF|BC015878x37552654-G6069237Afwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa08/25/0408/25/04126cDNAunknown
ss44882625ABI|hCV572769byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa07/19/0511/03/06126Genomicunknown
ss65725493ILLUMINA|Human1-rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa10/10/0610/10/06127Genomicunknown
ss66669271ILLUMINA|HumanHap300v1.1_rs1208fwd/BA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa11/09/0611/09/06127Genomicunknown
ss66858970EGP_SNPS|NAT2_010873byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa11/09/0612/16/06127Genomicunknown
ss66980685ILLUMINA|HumanHap550v1.1_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa11/14/0611/14/06127Genomicunknown
ss67153062ILLUMINA|HumanHap650Yv1.0_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa11/14/0611/14/06127Genomicunknown
ss69042400PERLEGEN|PGP04379094byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/30/0708/14/07127Genomicunknown
ss70404689ILLUMINA|HumanHap300v2.0_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/18/0711/18/07127Genomicunknown
ss70456621EGP_SNPS|NAT2-010873byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/19/0708/14/07127Genomicunknown
ss70554774ILLUMINA|HumanHap550v3.0__rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/20/0703/30/08130Genomicunknown
ss71091482ILLUMINA|HumanHap650Yv3.0_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/23/0704/23/07127Genomicunknown
ss74810963AFFY|SNP_M-184884fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa08/09/0708/09/07128Genomicunknown
ss75590894ILLUMINA|ILMN_Human_1M_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa08/28/0708/29/07129Genomicunknown
ss76467172AFFY|AFFY_6_1M_SNP_A-8328178fwd/TA/Ggttgaagaagtgctgaaaatatatttaagatt08/28/0708/30/07130Genomicunknown
ss76866282CGM_KYOTO|7128fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/12/0709/12/07129cDNAunknown
ss76883728SI_EXO|NT_030737.9_6103244byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/20/0709/05/14129Genomicunknown
ss77248065HGSV|Cor12156_SNV_20070510.chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa10/09/0710/12/07129Genomicunknown
ss83344498KRIBB_YJKIM|KHS439433fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa12/04/0712/04/07130Genomicunknown
ss84168271PHARMGKB_AB_DME|PS206059_PA147985739_301byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa12/06/0709/05/14130Genomicunknown
ss86271255CORNELL|hCV572769byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/21/0809/05/14129Genomicunknown
ss93848832BCMHGSC_JDW|JWB-2436465fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa02/26/0803/05/08129Genomicunknown
ss99307910SHGC|3134byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/17/0809/05/14130Genomicunknown
ss105603531BGI|BGI_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/10/0806/18/09130Genomicunknown
ss1128808901000GENOMES|CEU.trio.12.15.2008_1943859_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa12/18/0812/18/08130Genomicunknown
ss1150751431000GENOMES|NA19240_2008_12_16_1752289_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa12/19/0812/19/08130Genomicunknown
ss115861056ILLUMINA-UK|NA18507_000042493_NCBI36.1_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/16/0901/16/09130Genomic99 %
ss120036393ILLUMINA|GS0007123-OPA_Ober-rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa02/24/0902/24/09131Genomicunknown
ss121534681ILLUMINA|HumanCNV370v1_C_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/14/0904/14/09131Genomicunknown
ss140405883OMIM-CURATED-RECORDS|NP_000006.2:p.ARG268LYSfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa05/20/0905/22/09131Genomicunknown
ss143310648ENSEMBL|ENSSNP13437255fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa06/05/0906/06/09131Genomicunknown
ss153127416ILLUMINA|Human610_Quadv1_B_rs1208-128_T_F_1501633351fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa06/18/0906/19/09131Genomicunknown
ss156100879GMI|GMI_SNP_144845016fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa06/24/0906/24/09131Genomicunknown
ss159202860ILLUMINA|Human660W-Quad_v1_A_rs1208-128_T_F_1501633351fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa07/06/0907/06/09131Genomicunknown
ss159716517SEATTLESEQ|NAT2-18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa07/10/0907/10/09131Genomicunknown
ss162207626COMPLETE_GENOMICS|NA07022_36_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/28/0909/28/09132Genomicunknown
ss164094717COMPLETE_GENOMICS|NA19240_36_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/29/0909/29/09132Genomicunknown
ss166321100COMPLETE_GENOMICS|NA20431_36_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa09/30/0909/30/09132Genomicunknown
ss170039824ILLUMINA|HumanCNV370-Quadv3_C_rs1208-128_T_F_1501633351fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa10/01/0910/03/09132Genomicunknown
ss171840544ILLUMINA|Human1M-Duov3_B_rs1208-128_T_F_1501633351fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa10/01/0910/01/09132Genomicunknown
ss198867410BUSHMAN|BUSHMAN-chr8-18302595fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa02/16/1003/06/10132Genomicunknown
ss2235763941000GENOMES|pilot_1_YRI_5386077_chr8_18302596fwd/A/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa04/22/1004/22/10132Genomicunknown
ss2343458651000GENOMES|pilot_1_CEU_3950494_chr8_18302596fwd/A/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa05/01/1005/01/10132Genomicunknown
ss2412218351000GENOMES|pilot_1_CHB+JPT_3106912_chr8_18302596fwd/A/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa05/01/1005/01/10132Genomicunknown
ss244238724OMICIA|2010_April_001_042_NAT2_243400_0003fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa05/27/1005/28/10132Genomicunknown
ss244275240ILLUMINA|CVDSNP55v1_A_rs1208fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa06/10/1006/10/10132Genomicunknown
ss252841662OMIM-CURATED-RECORDS|17215fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa08/12/1008/12/10132Genomicunknown
ss254157071BL|SNP37521_8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa08/19/1008/19/10134Genomicunknown
ss279717738GMI|GMI_AK_SNP_4037991fwd/A/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa12/16/1012/16/10137Genomicunknown
ss285804793GMI|GMI_NA10851_SNP_1817566fwd/A/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa12/17/1012/17/10138Genomicunknown
ss294231048PJP|SNP_3737406_chr8_18302596fwd/A/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa01/21/1101/21/11134Genomicunknown
ss342253623NHLBI-ESP|ESP2500-chr8-18258316byFreqfwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa03/25/1109/05/14134Genomicunknown
ss410878057ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302596fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa06/07/1106/07/11135Genomicunknown
ss482929024ILLUMINA|HumanOmni2.5-4v1_D_kgp2302173-0_T_F_1822273439fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg01/30/1210/28/16137Genomicunknown
ss485580724ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18302596-0_T_F_1621323182fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg01/30/1210/29/16137Genomicunknown
ss4909607301000GENOMES|20110521_exome_468528_chr8_18258316fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa02/10/1202/21/12137Genomicunknown
ss491410771EXOME_CHIP|nonsyn_126997_chr_8_18258316fwd/TA/Gtcactgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttggggagaaa03/05/1203/05/12137Genomicunknown
ss491921843CLINSEQ_SNP|SNV-chr8-18302596byFreqfwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/06/1209/05/14137Genomicunknown
ss534825412ILLUMINA|HumanOmni5-4v1_B_kgp2302173-0_T_F_1822273439fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg06/22/1208/29/15146Genomicunknown
ss560588645TISHKOFF|snp_chr8_18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg11/22/1211/23/12138Genomicunknown
ss655024500SSMP|8_18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg12/14/1202/12/15138Genomicunknown
ss779493730ILLUMINA|HumanOmni25Exome-8v1_A_kgp2302173-0_T_F_1822273439fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/30/1307/10/15146Genomicunknown
ss780867835ILLUMINA|HumanOmni25Exome-8v1_A_exm685699-0_T_F_1922936085fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/30/1307/10/15146Genomicunknown
ss781924508ILLUMINA|HumanOmni2.5-4v1_H_kgp2302173-0_T_F_1822273439fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/30/1307/29/15146Genomicunknown
ss783552766ILLUMINA|HumanOmniExpressExome-8v1_A_exm685699-0_T_F_1922936085fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/31/1306/19/15146Genomicunknown
ss825373963ILLUMINA|HumanCNV370v1_C_rs1208-126_T_F_IFB1135728673:0fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg06/24/1311/21/14147Genomicunknown
ss834963895ILLUMINA|HumanOmni2.5-8v1_A_kgp2302173-0_T_F_1822273439fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg09/18/1307/29/15146Genomicunknown
ss974467367JMKIDD_LAB|KhoeSan_Exomes_chr8_18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/06/1403/06/14142Genomicunknown
ss985256289EVA-GONL|EVA-GONL_rs1208fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg04/23/1404/25/14142Genomicunknown
ss1067495866JMKIDD_LAB|HGDP_exomes_chr8_18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg07/09/1407/09/14142Genomicunknown
ss1075326288JMKIDD_LAB|HGDP_WGS_chr8_18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg07/10/1407/11/14142Genomicunknown
ss13288539241000GENOMES|PHASE3_V1_41165008fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg08/16/1408/16/14142Genomicunknown
ss1431436719DDI|DDI_rs1208fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg11/04/1411/05/14144Genomicunknown
ss1582586562EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1208fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/19/1502/20/15144Genomicunknown
ss1584057291EVA_FINRISK|EVA_FINRISK_rs1208fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/27/1502/27/15144Genomicunknown
ss1594845142EVA_DECODE|EVA_DECODE_8_18302596_223852_rs1208fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/02/1503/03/15144Genomicunknown
ss1620100548EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18258316_22761478fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/04/1503/04/15144Genomicunknown
ss1663094581EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18258316_22761478fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/04/1503/04/15144Genomicunknown
ss1689107941EVA_EXAC|EVA_EXAC_4197363fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/04/1503/04/15144Genomicunknown
ss1711194416EVA_MGP|EVA_XIMO_310176fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/09/1503/09/15144Genomicunknown
ss1713019602EVA_SVP|EVA_SVP_713969fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/12/1503/12/15144Genomicunknown
ss1805425820HAMMER_LAB|Hsieh_4440013fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg07/15/1507/16/15146Genomicunknown
ss1928545820WEILL_CORNELL_DGM|SNV:chr8:18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg10/16/1510/17/15147Genomicunknown
ss1946231122ILLUMINA|HumanCoreExome-12v1-0_C_exm685699-0_T_F_1922936085fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg10/29/1510/29/15147Genomicunknown
ss1959092419ILLUMINA|exm685699-0_T_F_1922936085fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg11/13/1511/13/15147Genomicunknown
ss1966657101AMU|chr8_18258316fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg01/29/1601/29/16147Genomicunknown
ss1970925402GENOMED|rs1208fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/16/1602/16/16147Genomicunknown
ss2024971342JJLAB|SNP5473897fwd/TA/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg08/29/1608/30/16149Genomicunknown
ss2153192871USC_VALOUEV|NC_000008.10:g.18258316G>Afwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg11/17/1611/17/16150Genomicunknown
ss2301164580HUMAN_LONGEVITY|HLI-8-18400806-G-Afwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg11/18/1611/18/16150Genomicunknown
ss2470822176TOPMED|8_18258316_G/Afwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg11/20/1611/20/16150Genomicunknown
ss2626970490SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3490745fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg01/06/1701/06/17151Genomicunknown
ss2634717915ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-kgp2302173-0_T_F_21311fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/02/1702/02/17151Genomicunknown
ss2634717916ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_exm685699-0_T_F_1922936085fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/02/1702/02/17151Genomicunknown
ss2634717917ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp2302173-0_T_F_182227343fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/02/1702/02/17151Genomicunknown
ss2708953254GRF|rs1208fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg02/13/1702/13/17151Genomicunknown
ss2711131681ILLUMINA|Consortium-OncoArray_15047405_A_exm685699-0_T_F_1922936085fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg03/22/1703/22/17151Genomicunknown
ss2737016796GNOMAD|exomes_rs1208fwd/A/G/Tgaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/17/1705/17/17151Genomicunknown
ss2748005973GNOMAD|coding_rs1208fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/17/1705/17/17151Genomicunknown
ss2863932631GNOMAD|rs1208fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/19/1705/19/17151Genomicunknown
ss3002780531SWEGEN|NC_000008.10:g.18258316G>Afwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg05/30/1705/30/17151Genomicunknown
ss3022824464ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685699-0_T_F_1922936085fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg06/28/1706/28/17151Genomicunknown
ss3026276051BIOINF_KMB_FNS_UNIBA|8.18400806G>Afwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg07/05/1707/05/17151Genomicunknown
ss3029637981CSIRBIOHTS|NM_000015.2:g.18258316G>Afwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg07/28/1707/28/17151Genomicunknown
ss3348074288CSHL|rs1208fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg10/02/1710/02/17151Genomicunknown
ss3555514804TOPMED|TOPMed_freeze_5?chr8:18,400,806fwd/A/Ggaggaagaggttgaagaagtgctgaaaatatatttaagatttccttgggg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1208|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 CAGCACTGGC ATGGTTCACC TTCTCCTGCA GGTGACCATT GACGGCAGGA ATTACATTGT
 CGATGCTGGG TCTGGAAGCT CCTCCCAGAT GTGGCAGCCT CTAGAATTAA TTTCTGGGAA
 GGATCAGCCT CAGGTGCCTT GCATTTTCTG CTTGACAGAA GAGAGAGGAA TCTGGTACCT
 GGACCAAATC AGGAGAGAGC AGTATATTAC AAACAAAGAA TTTCTTAATT CTCATCTCCT
 GCCAAAGAAG AAACACCAAA AAATATACTT ATTTACGCTT GAACCTCGAA CAATTGAAGA
 TTTTGAGTCT ATGAATACAT ACCTGCAGAC GTCTCCAACA TCTTCATTTA TAACCACATC
 ATTTTGTTCC TTGCAGACCC CAGAAGGGGT TTACTGTTTG GTGGGCTTCA TCCTCACCTA
 TAGAAAATTC AATTATAAAG ACAATACAGA TCTGGTCGAG TTTAAAACTC TCACTGAGGA
 AGAGGTTGAA GAAGTGCTGA
 D
 AAATATATTT AAGATTTCCT TGGGGAGAAA TCTCGTGCCC AAACCTGGTG ATGGATCCCT
 TACTATTTAG AATAAGGAAC AAAATAAACC CTTGTGTATG TATCACCCAA CTCACTAATT
 ATCAACTTAT GTGCTATCAG ATATCCTCTC TACCCTCACG TTATTTTGAA GAAAATCCTA
 AACATCAAAT ACTTTCATCC ATAAAAATGT CAGCATTTAT TAAAAAACAA TAACTTTTTA
 AAGAAACATA AGGACACATT TTCAAATTAA TAAAAATAAA GGCATTTTAA GGATGGCCTG
 TGATTATCTT GGGAAGCAGA GTGATTCATG CTAGAAAACA TTTAATATTG ATTTATTGTT
 GAATTCATAG TAAATTTTTA CTGGTAAATG AATAAAGAAT ATTGTGGAAA AACTCACTGT
 CTCTAAAGTT TATGAAAACA TTGTTGGCTA ATATATTGTG AATCAAAGTT TTTCTTTAGA
 CGACTTAGGA TATTATGGGG

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
G43400 sqnm142278 U53473 BC015878 Hs.2
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  
OMIM
612182.0003
243400.0003

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss115861056YRI 2IG 1.00000000 0.500000000.50000000
ss1233HydatidiformMolesTissue 10IG0.60000002 0.40000001 0.600000020.40000001
ss1328853924EAS 1008AF 0.960300030.03970000
EUR 1006AF 0.561600030.43840000
AFR 1322AF 0.605099980.39489999
AMR 694AF 0.626800000.37320000
SAS 978AF 0.637000020.36300001
ss143310648ENSEMBL_Watson 2IG1.00000000 1.00000000
ss162207626CEUEuropean 2IG1.00000000 1.00000000
ss164094717YRISub-Saharan African 2IG1.00000000 1.00000000
ss166321100PGP 2IG 1.00000000 0.500000000.50000000
ss1689107941ExAc_Aggregated_Populations121346AF 0.614622650.38537735
ss198867410BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss223576394pilot_1_YRI_low_coverage_panel 118AF 0.644067820.35593221
ss2323986WICGR8_asian_pooled 84AF 0.980000020.02000000
WICGR6_caucasian_pooled 96AF 0.709999980.28999999
CEPH 184AF 0.649999980.34999999
ss234345865pilot_1_CEU_low_coverage_panel 120AF 0.608333350.39166668
ss241221835pilot_1_CHB+JPT_low_coverage_panel 120AF 0.966666640.03333334
ss24796685CEPH 184AF 0.649999980.34999999
ss342253623ESP_Cohort_Populations 4110GF0.314841840.507055940.178102200.150222000.568369810.43163016
ss44882625AoD_African_American 90AF 0.649999980.34999999
AoD_Caucasian 92AF 0.560000000.44000000
AoD_Chinese 90AF 0.970000030.03000000
Brazilian Population 620AF0.630000000.230000000.140000000.001000000.740000010.25999999
ss491921843CSAgilent 1141GF0.284000010.510999980.205000000.527089000.539500000.46050000
ss5586793P1 202AF0.474999990.307000010.217999990.000999000.629000010.37099999
CAUC1 62AF0.354999990.484000000.161000001.000000000.597000000.40300000
AFR1 48AF0.375000000.250000000.375000000.020022000.500000000.50000000
HISP1 46AF0.347999990.347999990.303999990.150222000.522000010.47799999
PAC1 46AF0.870000000.087000000.043000000.050043000.913000050.08700000
ss66858970HSP_GENO_PANEL 54IG0.296296300.481481490.222222221.000000000.537037010.46296296
CEU_GENO_PANELEuropean 68IG0.235294120.558823530.205882360.527089000.514705900.48529410
AAM_GENO_PANELAfrican American 122IG0.491803290.377049180.131147530.317310000.680327890.31967214
CHB_GENO_PANELAsian 90IG0.955555560.04444445 1.000000000.977777780.02222222
YRI_GENO_PANELSub-Saharan African 120IG0.333333340.500000000.166666671.000000000.583333310.41666666
JPT_GENO_PANELAsian 24IG1.00000000 1.00000000
ss69042400HapMap-CEUEuropean 120IG0.333333340.483333320.183333341.000000000.574999990.42500001
HapMap-HCBAsian 90IG0.955555560.04444445 1.000000000.977777780.02222222
HapMap-JPTAsian 90IG0.933333340.06666667 1.000000000.966666640.03333334
HapMap-YRISub-Saharan African 120IG0.333333340.500000000.166666671.000000000.583333310.41666666
ss70456621PDR90-PANEL 178AF 0.662921370.33707866
ss76883728HapMap-CEUEuropean 226IG0.380530980.451327440.168141590.583882000.606194670.39380530
HapMap-HCBAsian 86IG0.976744170.02325581 1.000000000.988372090.01162791
HapMap-JPTAsian 172IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-YRISub-Saharan African 226IG0.407079640.460177000.132743361.000000000.637168170.36283186
HAPMAP-ASW 98IG0.510204080.306122450.183673470.050043000.663265290.33673468
HAPMAP-CHBAsian 82IG0.926829280.07317073 1.000000000.963414610.03658536
HAPMAP-CHD 170IG0.894117650.082352940.023529410.004998000.935294090.06470589
HAPMAP-GIH 176IG0.397727280.443181810.159090910.583882000.619318190.38068181
HAPMAP-LWK 180IG0.333333340.411111120.255555570.150222000.538888870.46111110
HAPMAP-MEX 100IG0.340000000.419999990.239999990.294266000.550000010.44999999
HAPMAP-MKK 280IG0.235714290.514285740.250000000.751830000.492857130.50714284
HAPMAP-TSI 176IG0.306818190.477272720.215909090.751830000.545454560.45454547
ss84168271PA147985740 350AF 0.797142860.20285714
ss86271255AGI_ASP_populationmultiple 62IG0.419354830.419354830.161290320.583882000.629032250.37096775
ss99307910P24 46AF 0.540000020.46000001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.473+/-0.1140000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNYESYES

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