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Reference SNP (refSNP) Cluster Report: rs917997                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3063/1534 (1000 Genomes)
T=0.2146/26946 (TOPMED)
HGVS Names
  • CM000664.2:g.102454108T>A
  • CM000664.2:g.102454108T>C
  • NC_000002.11:g.103070568T>C
  • NC_000002.12:g.102454108T>A
  • NC_000002.12:g.102454108T>C
  • NG_011481.1:g.40315T>A
  • NG_011481.1:g.40315T>C
Links , Linkout
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 ss276599866 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs917997 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
ss1353751TSC-CSHL|TSC0230808byFreqfwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag09/06/0004/07/0486Genomic95 %
ss2990154YUSUKE|IMS-JST002617fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag05/24/0110/10/0396Genomicunknown
ss5833428SC_JCM|NT_022171.10_2481774rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg01/10/0310/10/03111Genomicunknown
ss9908637BCM_SSAHASNP|chr2.NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg06/27/0310/10/03116Genomicunknown
ss13400743SC_SNP|NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg10/23/0310/31/03119Genomicunknown
ss14647818WI_SSAHASNP|chr2.NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg11/05/0311/22/03119Genomicunknown
ss16811431CSHL-HAPMAP|CSHL-HuAA-200402.chr2.NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg02/17/0403/04/04120Genomicunknown
ss17628469CSHL-HAPMAP|CSHL-HuCC-200402.chr2.NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg02/19/0403/04/04120Genomicunknown
ss19410772CSHL-HAPMAP|CSHL-HuDD-200402.chr2.NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg02/20/0403/04/04120Genomicunknown
ss21565155SSAHASNP|WGSA-200403-chr2.chr2.NT_022171.13_5136592rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg03/20/0403/20/04121Genomicunknown
ss23890157PERLEGEN|afd0739776byFreqrev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg08/10/0409/13/04123Genomicunknown
ss44143597ABI|hCV345197byFreqrev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg07/18/0511/03/06126Genomicunknown
ss66726952ILLUMINA|HumanHap300v1.1_rs917997fwd/BA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag11/09/0611/09/06127Genomicunknown
ss67894608ILLUMINA|HumanHap550v1.1_rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag11/14/0611/14/06127Genomicunknown
ss68029596ILLUMINA|HumanHap650Yv1.0_rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag11/14/0611/15/06127Genomicunknown
ss68395965CSHL-HAPMAP|perlegen:assay:24707.739776:1byFreqrev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg01/11/0701/16/07127NAunknown
ss71594250ILLUMINA|HumanHap650Yv3.0_rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag04/23/0704/23/07127Genomicunknown
ss75845011ILLUMINA|ILMN_Human_1M_rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag08/28/0708/29/07129Genomicunknown
ss78024970HGSV|Cor12878_SNV_20070510.chr2_102529086rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg10/17/0710/17/07129Genomicunknown
ss79289330ILLUMINA|HumanHap300v2.0_rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag04/18/0711/18/07130Genomicunknown
ss81049224HGSV|Cor18555_SNV_20070510.chr2_102529086rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg11/27/0711/27/07130Genomicunknown
ss83610668KRIBB_YJKIM|KHS501275fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag12/04/0712/05/07130Genomicunknown
ss91276805BCMHGSC_JDW|JWB-1280984rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg02/26/0803/01/08129Genomicunknown
ss96414313HUMANGENOME_JCVI|1103658171395rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg03/26/0803/26/08130Genomicunknown
ss98236069ILLUMINA|HumanHap550v3.0__rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag04/20/0703/31/08130Genomicunknown
ss106106733BGI|BGI_rs917997rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg09/13/0806/18/09130Genomicunknown
ss1097381111000GENOMES|CEU.trio.12.15.2008_433495_chr2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg12/16/0812/16/08130Genomicunknown
ss1106695251000GENOMES|NA19240_2008_12_16_394590_chr2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg12/17/0812/17/08130Genomicunknown
ss117810336ILLUMINA-UK|NA18507_000130134_NCBI36.1_chr2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg01/19/0901/20/09130Genomic99 %
ss122949773ILLUMINA|HumanCNV370v1_C_rs917997fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag04/14/0904/15/09131Genomicunknown
ss136213951ENSEMBL|ENSSNP1567225byFreqrev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg12/08/0803/07/10131Genomicunknown
ss138497793ENSEMBL|ENSSNP12075504rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg05/15/0905/17/09131Genomicunknown
ss154481311ILLUMINA|Human610_Quadv1_B_rs917997-128_T_F_1501902119fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag06/18/0906/20/09131Genomicunknown
ss157434747GMI|GMI_SNP_46648291rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg06/24/0906/25/09131Genomicunknown
ss159655719ILLUMINA|Human660W-Quad_v1_A_rs917997-128_T_F_1501902119fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag07/06/0907/07/09131Genomicunknown
ss160967695ILLUMINA|HumanOmni1-Quad_v1-0_B_rs917997-128_T_F_1501902119fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag08/04/0910/05/09131Genomicunknown
ss163835909COMPLETE_GENOMICS|NA19240_36_chr2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg09/29/0909/29/09132Genomicunknown
ss164888029COMPLETE_GENOMICS|NA07022_36_chr2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg09/29/0909/30/09132Genomicunknown
ss166944341COMPLETE_GENOMICS|NA20431_36_chr2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg09/30/0909/30/09132Genomicunknown
ss172431765ILLUMINA|HumanCNV370-Quadv3_C_rs917997-128_T_F_1501902119fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag10/01/0910/04/09132Genomicunknown
ss174783521ILLUMINA|Human1M-Duov3_B_rs917997-128_T_F_1501902119fwd/TA/Gcgaagctaaggtcaaaacgctggacatctgatagcttggttctagcattatctatcttag10/01/0910/05/09132Genomicunknown
ss200813864BUSHMAN|BUSHMAN-chr2-102436999rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg02/16/1003/07/10132Genomicunknown
ss205735349BCM-HGSC-SUB|BCM_CMT_1011-346512rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg03/15/1003/16/10132Genomicunknown
ss2194054481000GENOMES|pilot_1_YRI_1215131_chr2_102437000rev/C/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg04/22/1004/22/10132Genomicunknown
ss2312863591000GENOMES|pilot_1_CEU_890988_chr2_102437000rev/C/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg05/01/1005/01/10132Genomicunknown
ss2388133221000GENOMES|pilot_1_CHB+JPT_698399_chr2_102437000rev/C/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg05/01/1005/01/10132Genomicunknown
ss253329313BL|SNP107996_2_102437000rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg08/18/1008/18/10134Genomicunknown
ss276599866GMI|GMI_AK_SNP_920075rev/C/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg12/16/1012/16/10137Genomicunknown
ss284401064GMI|GMI_NA10851_SNP_413835rev/C/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg12/17/1012/17/10138Genomicunknown
ss292331620PJP|SNP_1837978_chr2_102437000rev/C/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg01/21/1101/21/11134Genomicunknown
ss481841959ILLUMINA|HumanOmni2.5-4v1_B_rs917997-128_T_F_1616875780rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag01/30/1210/28/16137Genomicunknown
ss481874628ILLUMINA|HumanOmniExpress-12v1_C_rs917997-131_T_F_1857562415rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag01/30/1210/27/16137Genomicunknown
ss482831827ILLUMINA|HumanOmni1-Quad_v1-0_C_rs917997-131_T_F_1865213406rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag01/30/1208/28/15146Genomicunknown
ss485715430ILLUMINA|HumanOmni2.5-4v1_D_rs917997-131_T_F_1857562415rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag01/30/1210/28/16137Genomicunknown
ss491322652EXOME_CHIP|.GWAS._38879_chr_2_103070568rev/BC/Tctaagatagataatgctagaaccaagctatcagatgtccagcgttttgaccttagcttcg03/05/1203/05/12137Genomicunknown
ss537576465ILLUMINA|HumanOmni5-4v1_B_rs917997-131_T_F_1885470223rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag06/22/1208/28/15146Genomicunknown
ss555755163TISHKOFF|snp_chr2_103070568rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag11/22/1211/23/12138Genomicunknown
ss649369731SSMP|2_103070568rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag12/14/1202/10/15138Genomicunknown
ss778632906ILLUMINA|HumanOmni25Exome-8v1_A_rs917997-131_T_F_1865213406rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/30/1307/09/15146Genomicunknown
ss780687199ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs917997-131_T_F_1990494635rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/30/1307/09/15146Genomicunknown
ss783303360ILLUMINA|HumanOmni2.5-4v1_H_rs917997-131_T_F_1857562415rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/30/1307/28/15146Genomicunknown
ss783360746ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs917997-131_T_F_1990494635rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/31/1306/19/15146Genomicunknown
ss784255563ILLUMINA|HumanOmniExpressExome-8v1_A_rs917997-131_T_F_1885470223rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/31/1306/19/15146Genomicunknown
ss825619848ILLUMINA|HumanCNV370v1_C_rs917997-126_T_F_IFB1153908116:0rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag06/24/1311/21/14144Genomicunknown
ss832564732ILLUMINA|HumanOmniExpress-12v1_H_rs917997-131_T_F_1857562415rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag09/17/1306/18/15146Genomicunknown
ss834090544ILLUMINA|HumanOmni2.5-8v1_A_rs917997-131_T_F_1865213406rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag09/18/1307/28/15146Genomicunknown
ss977154640EVA-GONL|EVA-GONL_rs917997rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag04/23/1404/23/14142Genomicunknown
ss1069347877JMKIDD_LAB|HGDP_WGS_chr2_103070568rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag07/10/1407/10/14142Genomicunknown
ss12985245731000GENOMES|PHASE3_V1_9561794rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag08/16/1408/16/14142Genomicunknown
ss1397300191HAMMER_LAB|HAMMER_LAB_rs917997rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag09/30/1407/15/15146Genomicunknown
ss1428674285DDI|DDI_rs917997rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag11/04/1411/04/14144Genomicunknown
ss1579003548EVA_GENOME_DK|EVA_GENOME_DK_snv_rs917997rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag02/19/1502/20/15144Genomicunknown
ss1586577714EVA_DECODE|EVA_DECODE_2_102437000_779618_rs917997rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag03/02/1503/02/15144Genomicunknown
ss1604159219EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_103070568_5251824rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag03/04/1503/04/15144Genomicunknown
ss1647153252EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_103070568_5251824rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag03/04/1503/04/15144Genomicunknown
ss1712477011EVA_SVP|EVA_SVP_171563rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag03/12/1503/12/15144Genomicunknown
ss1752302400ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs917997-131_T_F_1990494635rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/27/1506/09/15146Genomicunknown
ss1752302401ILLUMINA|OmniExpressExome-8v1-1_B_rs917997-131_T_F_1885470223rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/27/1506/09/15146Genomicunknown
ss1797193879HAMMER_LAB|Hsieh_1008315rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag07/15/1507/15/15146Genomicunknown
ss1917752376ILLUMINA|HumanExome-12v1-1_B_exm-rs917997-131_T_F_1990494635rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag10/16/1510/16/15147Genomicunknown
ss1920399839WEILL_CORNELL_DGM|SNV:chr2:103070568rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag10/16/1510/16/15147Genomicunknown
ss1946048049ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs917997-131_T_F_1990494635rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag10/29/1510/29/15147Genomicunknown
ss1958444296ILLUMINA|exm-rs917997-131_T_F_1990494635rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag11/13/1511/13/15147Genomicunknown
ss1968841048GENOMED|rs917997rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag02/16/1602/16/16147Genomicunknown
ss2020730060JJLAB|SNP1232615rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag08/29/1608/30/16149Genomicunknown
ss2095099070ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs917997-138_T_F_2264335323rev/BC/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag09/27/1609/27/16150Genomicunknown
ss2148785538USC_VALOUEV|NC_000002.11:g.103070568T>Crev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag11/17/1611/17/16150Genomicunknown
ss2232775497HUMAN_LONGEVITY|HLI-2-102454108-T-Crev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag11/18/1611/18/16150Genomicunknown
ss2398951028TOPMED|2_103070568_T/Crev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag11/19/1611/19/16150Genomicunknown
ss2624871340SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV774795rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag01/06/1701/06/17151Genomicunknown
ss2633650891ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs917997-131_T_F_188547022rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag02/02/1702/02/17151Genomicunknown
ss2703388795GRF|rs917997rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag02/13/1702/13/17151Genomicunknown
ss2777320874GNOMAD|rs917997rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/17/1705/17/17151Genomicunknown
ss2985180645AFFY|Axiom_PsorMich_Affx-17142404rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/24/1705/24/17151Genomicunknown
ss2985802386AFFY|Axiom_Smokesc1_Affx-17142404rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/24/1705/24/17151Genomicunknown
ss2990079945SWEGEN|NC_000002.11:g.103070568T>Crev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag05/30/1705/30/17151Genomicunknown
ss3021999679ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs917997-131_T_F_1990494635rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag06/28/1706/28/17151Genomicunknown
ss3024127659BIOINF_KMB_FNS_UNIBA|2.102454108T>Crev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag07/05/1707/05/17151Genomicunknown
ss3317634308TOPMED|TOPMed_freeze_5?chr2:102,454,108-01rev/A/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag10/02/1710/02/17151Genomicunknown
ss3317634309TOPMED|TOPMed_freeze_5?chr2:102,454,108-02rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag10/02/1710/02/17151Genomicunknown
ss3344380450CSHL|rs917997rev/C/Tatagataatgctagaaccaagctatcagatgtccagcgttttgaccttag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs917997|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 AAGGACCAGG AAAGCTATGA GAACTGCTCG GGCTATCATA GAAGGGTCAG TAAGGAGTTC
 TCTATGATGA GTGTTAGAGG TAGAGTGACC ATCATCCAAG GTAGGACACT TTTTCAGAGT
 GAAAGAGAGT ACTATAATAA TTATACTTGG ACAATAGGTG CAACCAGGAA CTAGAACATA
 TGGACACCTC AGAAGATGTG ACAGGGAAAT AATACTCTTT TCTAATTATA TTCCACTGAG
 TCCAATTGTT CTATTGCAAT CAGTCTCCTA TACATAGAAA ATTTGTTTTG GTTGTCTGCT
 TTGTTGTGGT TAATTGACAT ATAAGAAATA TAAATAGCCC CCTGTCCCGA ATGCTACCTT
 GTTATGTTCA GTGTACCTAG CAGCCTGGAA AGAGTGTATT CTGTAAATAT TACAGCTGGC
 TATTTCTCCT TTTGTGTATG TGCTAACCTG AAGCTCTATT TGATTTTCCA CGAAGCTAAG
 GTCAAAACGC TGGACATCTG
 D
 ATAGCTTGGT TCTAGCATTA TCTATCTTAG GATAAACTGA ACAAAGTGGC CAAAAGAAGT
 CTGAGTCTTA AATCTCAGAG AGTGGCGGGC AGGAAGGCCA GGGATCCTGG CCATCACCAA
 AGCACAATGG CACAGTGACA ATATGGGCTC CTCTTCACTG AGACCCTGCA ATGATCCTTC
 CCACAAGAAA CTTCCTCCAA GAATAATTTA TACCCTTTAA CTCATTGTTA ACTTTATCAC
 TGAAATTTCC AACAAGGATG TTGCTTGGTG CCAAAGCCAC AGTGGTTTTT ATGATGTGGG
 TGCCTCTGTG AATAAAGAGC AGAAGAGTGT TTCACGCAGG CCCCAAGACG ACAATGACTT
 TTAGCCACTC TGAACTTGGA TCACATCCAG ACTGGTGGGT GTGACACACT GCATGTGAAT
 GAGTCCAGAC ATTGCTTTTA TTTATTGCTC AGATGATAAA TCATTTTATT CCTTCAGAAA
 AGACAGAGTA TAAGAGCTTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022171.10 ABBA01073899 AC069485.2
dbSNP Blast Analysis
OMIM
604494
266600
212750
612006

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs917997 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
C/C
C/T
G
G/G
HWPA
C
G
T
ss117810336YRI 2IG 1.00000000 1.00000000
ss1298524573EAS 1008AF 0.41670001 0.58329999
EUR 1006AF 0.22070000 0.77930003
AFR 1322AF 0.09980000 0.90020007
AMR 694AF 0.47260001 0.52740002
SAS 978AF 0.44170001 0.55830002
ss1353751SC_12_AAAfrican American 24IG 0.666666690.33333334 0.75183000 0.83333331 0.16666667
SC_12_CEuropean 6IG 0.666666690.33333334 0.83333331 0.16666667
SC_95_CEuropean 88IG0.022727270.36363637 0.613636370.438578000.20454545 0.79545456
ss136213951ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 8IG0.250000000.25000000 0.50000000 0.37500000 0.62500000
ss138497793ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss163835909YRISub-Saharan African 2IG 1.00000000 1.00000000
ss164888029CEUEuropean 2IG 1.00000000 0.50000000 0.50000000
ss166944341PGP 2IG 1.00000000 1.00000000
ss200813864BUSHMAN_POP2 2IG 1.00000000 0.50000000 0.50000000
BANTU 1IG 1.00000000 1.00000000
ss219405448pilot_1_YRI_low_coverage_panel 118AF 0.05084746 0.94915253
ss231286359pilot_1_CEU_low_coverage_panel 120AF 0.23333333 0.76666665
ss238813322pilot_1_CHB+JPT_low_coverage_panel 120AF 0.38333333 0.61666667
ss23890157AFD_EUR_PANELEuropean 48IG0.041666670.33333334 0.625000001.000000000.20833333 0.79166669
AFD_AFR_PANELAfrican American 46IG 0.26086956 0.739130440.751830000.13043478 0.86956519
AFD_CHN_PANELAsian 48IG0.208333330.54166669 0.250000000.751830000.47916666 0.52083331
ss44143597HapMap-CEUEuropean 226IG0.035398230.33628318 0.628318610.751830000.20353982 0.79646015
HapMap-HCBAsian 86IG0.255813960.41860464 0.325581400.317310000.46511629 0.53488374
HapMap-JPTAsian 172IG0.116279070.59302324 0.290697660.050043000.41279069 0.58720928
HapMap-YRISub-Saharan African 226IG 0.09734514 0.902654891.000000000.04867257 0.95132744
AoD_African_American 90AF 0.16000000 0.83999997
AoD_Caucasian 92AF 0.27000001 0.73000002
AoD_Chinese 90AF 0.41000003 0.58999997
AoD_Japanese 90AF 0.43000001 0.56999999
HAPMAP-ASW 98IG 0.08163265 0.918367331.000000000.04081633 0.95918369
HAPMAP-CHBAsian 82IG0.195121940.58536583 0.219512190.273322000.48780489 0.51219511
HAPMAP-CHD 170IG0.211764710.58823532 0.200000000.150222000.50588238 0.49411765
HAPMAP-GIH 176IG0.170454550.54545456 0.284090910.342782000.44318181 0.55681819
HAPMAP-LWK 180IG 0.30000001 0.699999990.402784000.15000001 0.85000002
HAPMAP-MEX 100IG0.180000010.51999998 0.300000010.751830000.44000000 0.56000000
HAPMAP-MKK 286IG0.034965030.27272728 0.692307710.654721000.17132868 0.82867134
HAPMAP-TSI 176IG0.045454550.30681819 0.647727250.751830000.19886364 0.80113637
ss96414313J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.425+/-0.1790000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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