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Reference SNP (refSNP) Cluster Report: rs10438933                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1040/521 (1000 Genomes)
G=0.1388/17427 (TOPMED)
HGVS Names
  • CM000680.2:g.31693166A>G
  • NC_000018.10:g.31693166A>G
  • NC_000018.9:g.29273129A>G
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 ss44086445 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10438933 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
ss14757867SC_SNP|NT_010966.13_10762231fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact11/12/0311/22/03119Genomicunknown
ss17596461CSHL-HAPMAP|CSHL-HuCC-200402.chr18.NT_010966.13_10762231fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact02/19/0403/04/04120Genomicunknown
ss44086445ABI|hCV1278144byFreqfwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact07/18/0511/03/06126Genomicunknown
ss66665244ILLUMINA|HumanHap300v1.1_rs10438933fwd/BA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact11/09/0611/09/06127Genomicunknown
ss66883168ILLUMINA|HumanHap550v1.1_rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact11/14/0611/14/06127Genomicunknown
ss66977250ILLUMINA|HumanHap650Yv1.0_rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact11/14/0611/14/06127Genomicunknown
ss70365697ILLUMINA|HumanHap300v2.0_rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact04/18/0711/17/07127Genomicunknown
ss70478880ILLUMINA|HumanHap550v3.0__rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact04/20/0703/29/08130Genomicunknown
ss71002265ILLUMINA|HumanHap650Yv3.0_rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact04/23/0704/23/07127Genomicunknown
ss74854693AFFY|SNP_M-614652fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact08/09/0708/09/07128Genomicunknown
ss75559629ILLUMINA|ILMN_Human_1M_rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact08/28/0708/29/07129Genomicunknown
ss84938015KRIBB_YJKIM|KHS853803fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact12/04/0712/08/07130Genomicunknown
ss1103220481000GENOMES|CEU.trio.12.15.2008_3488527_chr18_27527127fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact12/17/0812/17/08130Genomicunknown
ss117827943ILLUMINA-UK|NA18507_000035698_NCBI36.1_chr18_27527127fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact01/20/0901/20/09130Genomic99 %
ss121305889ILLUMINA|HumanCNV370v1_C_rs10438933fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact04/14/0904/14/09131Genomicunknown
ss152726258ILLUMINA|Human610_Quadv1_B_rs10438933-127_T_F_1501621595fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact06/18/0906/19/09131Genomicunknown
ss159123652ILLUMINA|Human660W-Quad_v1_A_rs10438933-128_T_F_1501621595fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact07/06/0907/06/09131Genomicunknown
ss159893809ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10438933-128_T_F_1501621595fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact08/04/0910/01/09131Genomicunknown
ss161850091ENSEMBL|ENSSNP1413299byFreqfwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact09/24/0903/07/10131Genomicunknown
ss169385948ILLUMINA|HumanCNV370-Quadv3_C_rs10438933-127_T_F_1501621595fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact10/01/0910/02/09132Genomicunknown
ss170080463ILLUMINA|Human1M-Duov3_B_rs10438933-127_T_F_1501621595fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact10/01/0910/01/09132Genomicunknown
ss203116485BUSHMAN|BUSHMAN-chr18-27527126byFreqfwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact02/16/1009/05/14132Genomicunknown
ss208117695BCM-HGSC-SUB|BCM_CMT_1011-3005079fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact03/15/1003/19/10132Genomicunknown
ss2118690051000GENOMES|YRI.trio.3.2010_1393874_chr18_27527127fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact03/29/1003/30/10132Genomicunknown
ss2277998291000GENOMES|pilot_1_YRI_9609512_chr18_27527127fwd/A/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact04/22/1004/22/10132Genomicunknown
ss2374225061000GENOMES|pilot_1_CEU_7027135_chr18_27527127fwd/A/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact05/01/1005/01/10132Genomicunknown
ss479267242ILLUMINA|HumanOmni2.5-4v1_B_rs10438933-128_T_F_1768761644fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca01/30/1210/28/16137Genomicunknown
ss479270173ILLUMINA|HumanOmniExpress-12v1_C_rs10438933-131_T_F_1857086426fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca01/30/1210/27/16137Genomicunknown
ss479641095ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10438933-131_T_F_1865725592fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca01/30/1208/28/15146Genomicunknown
ss484434266ILLUMINA|HumanOmni2.5-4v1_D_rs10438933-131_T_F_1857086426fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca01/30/1210/27/16137Genomicunknown
ss491532478EXOME_CHIP|.GWAS._248704_chr_18_29273129fwd/TA/Gtgtttgtaccttaactttggaagtcaatgctataaaaatgatttactagaactcaagact03/05/1203/06/12137Genomicunknown
ss536605163ILLUMINA|HumanOmni5-4v1_B_rs10438933-131_T_F_1885471683fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca06/22/1208/29/15146Genomicunknown
ss565574043TISHKOFF|snp_chr18_29273129fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca11/22/1211/23/12138Genomicunknown
ss661402188SSMP|18_29273129fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca12/14/1202/14/15138Genomicunknown
ss778355942ILLUMINA|HumanOmni25Exome-8v1_A_rs10438933-131_T_F_1865725592fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/30/1307/10/15142Genomicunknown
ss780680436ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs10438933-131_T_F_1990486972fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/30/1307/10/15142Genomicunknown
ss782663598ILLUMINA|HumanOmni2.5-4v1_H_rs10438933-131_T_F_1857086426fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/30/1307/29/15142Genomicunknown
ss783353713ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs10438933-131_T_F_1990486972fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/31/1306/19/15142Genomicunknown
ss783632458ILLUMINA|HumanOmniExpressExome-8v1_A_rs10438933-131_T_F_1885471683fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/31/1306/19/15142Genomicunknown
ss825335428ILLUMINA|HumanCNV370v1_C_rs10438933-126_T_F_IFB1135788537:0fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca06/24/1311/21/14144Genomicunknown
ss831914150ILLUMINA|HumanOmniExpress-12v1_H_rs10438933-131_T_F_1857086426fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca09/17/1306/18/15144Genomicunknown
ss832636368ILLUMINA|Human660W-Quad_v1_C_rs10438933-131_T_F_1857086426fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca09/18/1307/02/15142Genomicunknown
ss833227057ILLUMINA|Human660W-Quad_v1_H_rs10438933-131_T_F_1857086426fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca09/18/1307/02/15142Genomicunknown
ss833810685ILLUMINA|HumanOmni2.5-8v1_A_rs10438933-131_T_F_1865725592fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca09/18/1307/29/15142Genomicunknown
ss993609038EVA-GONL|EVA-GONL_rs10438933fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca04/23/1404/30/14142Genomicunknown
ss1081412647JMKIDD_LAB|HGDP_WGS_chr18_29273129fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca07/10/1407/12/14142Genomicunknown
ss13605762691000GENOMES|PHASE3_V1_74191693fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca08/16/1408/16/14142Genomicunknown
ss1428183451DDI|DDI_rs10438933fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca11/04/1411/04/14144Genomicunknown
ss1578356663EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10438933fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca02/19/1502/20/15144Genomicunknown
ss1636630989EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_18_29273129_40930964fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca03/04/1503/04/15144Genomicunknown
ss1679625022EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_18_29273129_40930964fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca03/04/1503/04/15144Genomicunknown
ss1697663210EVA_DECODE|EVA_DECODE_18_27527127_207202_rs10438933fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca03/02/1503/05/15144Genomicunknown
ss1713617567EVA_SVP|EVA_SVP_1311825fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca03/12/1503/12/15144Genomicunknown
ss1752252343ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs10438933-131_T_F_1990486972fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/27/1506/09/15146Genomicunknown
ss1752252344ILLUMINA|OmniExpressExome-8v1-1_B_rs10438933-131_T_F_1885471683fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/27/1506/09/15146Genomicunknown
ss1809003024HAMMER_LAB|Hsieh_8031513fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca07/15/1507/16/15146Genomicunknown
ss1917926631ILLUMINA|HumanExome-12v1-1_B_exm-rs10438933-131_T_F_1990486972fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca10/16/1510/16/15147Genomicunknown
ss1937083882WEILL_CORNELL_DGM|SNV:chr18:29273129fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca10/16/1510/19/15147Genomicunknown
ss1946495939ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs10438933-131_T_F_1990486972fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca10/29/1510/29/15147Genomicunknown
ss1959796974ILLUMINA|exm-rs10438933-131_T_F_1990486972fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca11/13/1511/13/15147Genomicunknown
ss1966653062AMU|chr18_29273129fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca01/29/1601/29/16147Genomicunknown
ss2029310944JJLAB|SNP9813499fwd/TA/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca08/29/1608/31/16149Genomicunknown
ss2157813523USC_VALOUEV|NC_000018.9:g.29273129A>Gfwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca11/17/1611/17/16150Genomicunknown
ss2220624464HUMAN_LONGEVITY|HLI-18-31693166-A-Gfwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca11/18/1611/18/16150Genomicunknown
ss2386004956TOPMED|18_29273129_A/Gfwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca11/19/1611/19/16150Genomicunknown
ss2633459864ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs10438933-131_T_F_213fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca02/02/1702/02/17151Genomicunknown
ss2633459865ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10438933-131_T_F_1885471fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca02/02/1702/02/17151Genomicunknown
ss2633459866ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs10438933-131_T_F_213fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca02/02/1702/02/17151Genomicunknown
ss2955409236GNOMAD|rs10438933fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/23/1705/23/17151Genomicunknown
ss2985115441AFFY|Axiom_PsorMich_Affx-14747873fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/24/1705/24/17151Genomicunknown
ss3016350551SWEGEN|NC_000018.9:g.29273129A>Gfwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca05/30/1705/30/17151Genomicunknown
ss3028482343BIOINF_KMB_FNS_UNIBA|18.31693166A>Gfwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca07/05/1707/05/17151Genomicunknown
ss3276355186TOPMED|TOPMed_freeze_5?chr18:31,693,166fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca10/01/1710/01/17151Genomicunknown
ss3351973546CSHL|rs10438933fwd/A/Ggtaccttaactttggaagtcaatgctataaaaatgatttactagaactca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10438933|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AGCGTGGGGA TATATTCCTA GATGTTAGGG CTCTAACTGA ACTTACTTAT ATGGGGTCCT
 GTAGTTTCTA TGGAGATGTA ATATAGGTAT TGTACTTAAG TGATTGCTTC ATCCTCAGTT
 TTTAGCAATG TTTAGAATGT CCTTCAAAAT GTCAAAGACT TCTACCAATC TCCTAATTTT
 CTTTATTCTC TGCTTCCTCA AATATTTCCT TAAAAGCATC ACAAGTTGGC AGAAAACGTG
 TGTCCTCAGC TACCTCCTGA TTCTCTGCCT TGTTTGTACC TTAACTTTGG AAGTCAATGC
 R
 TATAAAAATG ATTTACTAGA ACTCAAGACT GGAAGGAGAG GCTGAGGCAG AGAACACGAG
 AACACAACAC ACATTGTGGA ACCACTCAGC TCAGGATGGT TTGGCCTTTG TTTATTGCTT
 GTGTACACCA GTACACAAGT ACACCGGTAC ATCACTGGTG GAACATATGA TGGCACTCAG
 TGCATGGAGA AAAGTCCTAT TAACAGAATG TCATAGATGA ATATGTAAAT AGCTGTTACA
 CATATGGCAT ATTCTACTTT TTAAAATATC ATAAAGACAA ACAGCAAATG GGAGATATAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010966
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.
SourceA/A
A/G
G/G
HWPA
G
ss117827943YRI 2IG 1.00000000 0.500000000.50000000
ss1360576269EAS 1008AF 0.983100000.01690000
EUR 1006AF 0.850899990.14910001
AFR 1322AF 0.801100020.19890000
AMR 694AF 0.912099960.08790001
SAS 978AF 0.969300030.03070000
ss161850091ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss203116485BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss227799829pilot_1_YRI_low_coverage_panel 118AF 0.830508470.16949153
ss237422506pilot_1_CEU_low_coverage_panel 120AF 0.908333360.09166667
ss44086445HapMap-CEUEuropean 226IG0.752212410.230088500.017699111.000000000.867256640.13274336
HapMap-HCBAsian 86IG0.976744170.02325581 1.000000000.988372090.01162791
HapMap-JPTAsian 172IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-YRISub-Saharan African 226IG0.610619490.380530980.008849560.050043000.800884960.19911504
HAPMAP-ASW 98IG0.714285730.28571430 0.583882000.857142870.14285715
HAPMAP-CHBAsian 82IG1.00000000 1.00000000
HAPMAP-CHD 170IG0.976470590.02352941 1.000000000.988235290.01176471
HAPMAP-GIH 176IG0.920454560.07954545 1.000000000.960227250.03977273
HAPMAP-LWK 180IG0.766666650.23333333 0.583882000.883333330.11666667
HAPMAP-MEX 100IG0.819999990.18000001 1.000000000.910000030.09000000
HAPMAP-MKK 286IG0.790209770.195804190.013986011.000000000.888111890.11188811
HAPMAP-TSI 176IG0.761363630.204545450.034090910.250592000.863636370.13636364
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.186+/-0.2420000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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