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Reference SNP (refSNP) Cluster Report: rs9696357                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.2582/1293 (1000 Genomes)
T=0.2222/27900 (TOPMED)
HGVS Names
  • CM000671.2:g.93082870C>G
  • CM000671.2:g.93082870C>T
  • NC_000009.11:g.95845152C>T
  • NC_000009.12:g.93082870C>G
  • NC_000009.12:g.93082870C>T
  • NM_001287005.1:c.519-1667C>G
  • NM_001287005.1:c.519-1667C>T
  • NM_001287006.1:c.426-1667C>G
  • NM_001287006.1:c.426-1667C>T
  • NM_001287007.1:c.237-1667C>G
  • NM_001287007.1:c.237-1667C>T
  • NM_001287008.1:c.369-1667C>G
  • NM_001287008.1:c.369-1667C>T
  • NM_145006.3:c.558-1667C>G
  • NM_145006.3:c.558-1667C>T
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 ss115761613 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9696357 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
ss13497946WI_SSAHASNP|chr9.NT_008476.14_3166357byFreqfwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc10/31/0310/25/06119Genomicunknown
ss15859167SC_SNP|NT_008476.14_3166357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc11/17/0311/22/03120Genomicunknown
ss66695855ILLUMINA|HumanHap300v1.1_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc11/09/0611/09/06127Genomicunknown
ss67942391ILLUMINA|HumanHap550v1.1_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc11/14/0611/15/06127Genomicunknown
ss68057832ILLUMINA|HumanHap650Yv1.0_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc11/14/0611/15/06127Genomicunknown
ss71622597ILLUMINA|HumanHap650Yv3.0_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc04/23/0704/23/07127Genomicunknown
ss75586312ILLUMINA|ILMN_Human_1M_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc08/28/0708/29/07129Genomicunknown
ss79303108ILLUMINA|HumanHap300v2.0_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc04/18/0711/18/07130Genomicunknown
ss84851136KRIBB_YJKIM|KHS829205fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc12/04/0712/08/07130Genomicunknown
ss98284154ILLUMINA|HumanHap550v3.0__rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc04/20/0703/31/08130Genomicunknown
ss115761613ILLUMINA-UK|NA18507_000092026_NCBI36.1_chr9_94884973byFreqfwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc01/15/0909/05/14130Genomic99 %
ss123032148ILLUMINA|HumanCNV370v1_C_rs9696357fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc04/14/0904/15/09131Genomicunknown
ss154507286ILLUMINA|Human610_Quadv1_B_rs9696357-128_B_F_1501895672fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc06/18/0906/20/09131Genomicunknown
ss159681196ILLUMINA|Human660W-Quad_v1_A_rs9696357-128_B_F_1501895672fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc07/06/0907/07/09131Genomicunknown
ss161009042ILLUMINA|HumanOmni1-Quad_v1-0_B_rs9696357-128_B_F_1501895672fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc08/04/0910/05/09131Genomicunknown
ss165466533COMPLETE_GENOMICS|NA19240_36_chr9_94884973fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc09/29/0909/30/09132Genomicunknown
ss172494744ILLUMINA|HumanCNV370-Quadv3_C_rs9696357-128_B_F_1501895672fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc10/01/0910/04/09132Genomicunknown
ss174889870ILLUMINA|Human1M-Duov3_B_rs9696357-128_B_F_1501895672fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc10/01/0910/05/09132Genomicunknown
ss200612709BUSHMAN|BUSHMAN-chr9-94884972fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc02/16/1003/07/10132Genomicunknown
ss2108079161000GENOMES|YRI.trio.3.2010_895117_chr9_94884973fwd/BC/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc03/29/1003/29/10132Genomicunknown
ss2243384981000GENOMES|pilot_1_YRI_6148181_chr9_94884973fwd/C/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc04/22/1004/22/10132Genomicunknown
ss2348859831000GENOMES|pilot_1_CEU_4490612_chr9_94884973fwd/C/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc05/01/1005/01/10132Genomicunknown
ss2416470061000GENOMES|pilot_1_CHB+JPT_3532083_chr9_94884973fwd/C/Tgatgatggcagccacagctgctgccgctgcgcaggggctttgctggccagagcatgatgc05/01/1005/01/10132Genomicunknown
ss481967487ILLUMINA|HumanOmni2.5-4v1_B_rs9696357-128_B_F_1776830669fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat01/30/1210/29/16137Genomicunknown
ss482001129ILLUMINA|HumanOmniExpress-12v1_C_rs9696357-131_B_F_1857702311fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat01/30/1210/27/16137Genomicunknown
ss482955223ILLUMINA|HumanOmni1-Quad_v1-0_C_rs9696357-131_B_F_1865173353fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat01/30/1208/28/15146Genomicunknown
ss485777223ILLUMINA|HumanOmni2.5-4v1_D_rs9696357-131_B_F_1857702311fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat01/30/1210/28/16137Genomicunknown
ss561493453TISHKOFF|snp_chr9_95845152fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat11/22/1211/23/12138Genomicunknown
ss655987509SSMP|9_95845152fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat12/14/1202/12/15138Genomicunknown
ss783334480ILLUMINA|HumanOmni2.5-4v1_H_rs9696357-131_B_F_1857702311fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat05/30/1307/29/15146Genomicunknown
ss825633626ILLUMINA|HumanCNV370v1_C_rs9696357-120_B_F_IFB1135731094:0fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat06/24/1311/21/14144Genomicunknown
ss832596286ILLUMINA|HumanOmniExpress-12v1_H_rs9696357-131_B_F_1857702311fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat09/17/1306/19/15146Genomicunknown
ss986751293EVA-GONL|EVA-GONL_rs9696357fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat04/23/1404/25/14142Genomicunknown
ss13345961571000GENOMES|PHASE3_V1_47131617fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat08/16/1408/16/14142Genomicunknown
ss1431894814DDI|DDI_rs9696357fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat11/04/1411/05/14144Genomicunknown
ss1583170331EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9696357fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat02/19/1502/20/15144Genomicunknown
ss1596386777EVA_DECODE|EVA_DECODE_9_94884973_563407_rs9696357fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat03/02/1503/03/15144Genomicunknown
ss1623101871EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_95845152_26041953fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat03/04/1503/04/15144Genomicunknown
ss1666095904EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_95845152_26041953fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat03/04/1503/04/15144Genomicunknown
ss1713122864EVA_SVP|EVA_SVP_817231fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat03/12/1503/12/15144Genomicunknown
ss1752789719ILLUMINA|OmniExpressExome-8v1-1_B_rs9696357-131_B_F_1866917244fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat05/27/1506/09/15146Genomicunknown
ss1806062111HAMMER_LAB|Hsieh_5078736fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat07/15/1507/16/15146Genomicunknown
ss1930064515WEILL_CORNELL_DGM|SNV:chr9:95845152fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat10/16/1510/17/15147Genomicunknown
ss1946262504ILLUMINA|HumanCoreExome-12v1-0_C_rs9696357-131_B_F_1866917244fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat10/29/1510/29/15147Genomicunknown
ss1959196958ILLUMINA|rs9696357-131_B_F_1908626094fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat11/13/1511/13/15147Genomicunknown
ss2025751571JJLAB|SNP6254126fwd/BC/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat08/29/1608/30/16149Genomicunknown
ss2153977564USC_VALOUEV|NC_000009.11:g.95845152C>Tfwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat11/17/1611/17/16150Genomicunknown
ss2312670908HUMAN_LONGEVITY|HLI-9-93082870-C-Tfwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat11/18/1611/18/16150Genomicunknown
ss2483105772TOPMED|9_95845152_C/Tfwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat11/20/1611/20/16150Genomicunknown
ss2627341955SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3969047fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat01/06/1701/06/17151Genomicunknown
ss2634889039ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs9696357-131_B_F_18669172fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat02/02/1702/02/17151Genomicunknown
ss2709847919GRF|rs9696357fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat02/13/1702/13/17151Genomicunknown
ss2711166671ILLUMINA|Consortium-OncoArray_15047405_A_rs9696357-131_B_F_2196894830fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat03/22/1703/22/17151Genomicunknown
ss2880770388GNOMAD|rs9696357fwd/C/G/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat05/19/1705/19/17151Genomicunknown
ss3005239747SWEGEN|NC_000009.11:g.95845152C>Tfwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat05/30/1705/30/17151Genomicunknown
ss3022943605ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs9696357-138_B_F_2276770683fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat06/28/1706/28/17151Genomicunknown
ss3026656428BIOINF_KMB_FNS_UNIBA|9.93082870C>Tfwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat07/05/1707/05/17151Genomicunknown
ss3348758405CSHL|rs9696357fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat10/02/1710/02/17151Genomicunknown
ss3594994192TOPMED|TOPMed_freeze_5?chr9:93,082,870fwd/C/Ttggcagccacagctgctgccgctgcgcaggggctttgctggccagagcat10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9696357|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 TTTCCTTTTT ATTTTAGTTT TGTTGGGGCC ATGGTGGCTA ATGCCTTTCC TTTTGGGTAG
 TGAGATATCC AAAGCCACTT TCAGAGCTCC TCCATTGCCC CACCTGTGAT CCCCACTCCC
 CATTACAGCA CTGGGACCAG ATCATCCTGT GTCATAACTG GGAAAGTGCC CATGGAATGG
 GGGAAGGAAC AATTGCCTCT CAAGGCAACA TGGTGTCCAG GATGATGGCA GCCACAGCTG
 CTGCCGCTGC
 B
 GCAGGGGCTT TGCTGGCCAG AGCATGATGC CGAGGGGCTC CCAGGGGTGC TGTTTGGGGC
 CACACTTCTG CCTGGTCCCA GCGCCACAGA CCCTGCCTCT TACACTGCGG GAACTTGTGC
 AGTGTGTGGT CGGACGTGTG CGTCCCGTCC AAGAGTGGCC ACAGATCTGT GTACAGGGCT
 GTGTTCACCC CCTCTGGGGA GTGAGAGAGC CAGGGCGGGA GGGAGGCACC CTGACAGGGC
 CGTGAGAGGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008476
dbSNP Blast Analysis

  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.
SourceC/C
C/T
T/T
HWPC
T
ss115761613HapMap-CEUEuropean 116IG0.741379320.25862068 0.583882000.870689630.12931034
HapMap-HCBAsian 90IG0.755555570.222222220.022222221.000000000.866666670.13333334
HapMap-JPTAsian 90IG0.688888910.222222220.088888890.050043000.800000010.20000000
HapMap-YRISub-Saharan African 222IG0.234234230.558558580.207207200.250592000.513513510.48648649
HAPMAP-ASW 94IG0.553191480.276595740.170212760.020022000.691489340.30851063
HAPMAP-CHD 162IG0.629629610.308641970.061728400.438578000.783950630.21604939
HAPMAP-GIH 174IG0.459770110.448275860.091954020.751830000.683908050.31609195
HAPMAP-LWK 178IG0.213483140.584269640.202247190.150222000.505617980.49438202
HAPMAP-MKK 274IG0.474452560.394160600.131386860.250592000.671532870.32846716
ENSEMBL_Watson 2IG1.00000000 1.00000000
YRI 2IG 1.00000000 0.500000000.50000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss1334596157EAS 1008AF 0.797599970.20240000
EUR 1006AF 0.850899990.14910001
AFR 1322AF 0.588500020.41150001
AMR 694AF 0.879000010.12100000
SAS 978AF 0.681999980.31799999
ss165466533YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss200612709BANTU 2IG 1.00000000 0.500000000.50000000
ss224338498pilot_1_YRI_low_coverage_panel 118AF 0.559322060.44067797
ss234885983pilot_1_CEU_low_coverage_panel 120AF 0.808333340.19166666
ss241647006pilot_1_CHB+JPT_low_coverage_panel 120AF 0.800000010.20000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.383+/-0.2120000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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