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Reference SNP (refSNP) Cluster Report: rs3136817                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:103/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1805/904 (1000 Genomes)
C=0.2154/27052 (TOPMED)
HGVS Names
  • CM000676.2:g.20456275T>C
  • NC_000014.8:g.20924434T>C
  • NC_000014.9:g.20456275T>C
  • NG_008718.1:g.6145T>C
  • NM_001244249.1:c.246+174T>C
  • NM_001641.3:c.246+174T>C
  • NM_017807.3:c.-1592A>G
  • NM_080648.2:c.246+174T>C
  • NM_080649.2:c.246+174T>C
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 ss281912638 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3136817 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
ss4385207EGP_SNPS|APEX-001853byFreqfwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct03/18/0204/07/04103Genomicunknown
ss76501691AFFY|AFFY_6_1M_SNP_A-8362602rev/TA/Gaagaaaatggcaatggagtgaaggaacagaca08/28/0708/30/07129Genomicunknown
ss76861194CGM_KYOTO|1246fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct09/12/0709/12/07129cDNAunknown
ss78240106HGSV|Cor12878_SNV_20070510.chr14_19994274fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct10/17/0710/18/07129Genomicunknown
ss104886874KRIBB_YJKIM|KHS1279192fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct07/10/0807/10/08130Genomicunknown
ss1081514231000GENOMES|CEU.trio.12.15.2008_3001199_chr14_19994274fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct12/15/0812/15/08130Genomicunknown
ss160614395ILLUMINA|HumanOmni1-Quad_v1-0_B_rs3136817-128_B_F_1561718360fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct08/04/0910/04/09131Genomicunknown
ss199788010BUSHMAN|BUSHMAN-chr14-19994273fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct02/16/1003/06/10132Genomicunknown
ss2264477971000GENOMES|pilot_1_YRI_8257480_chr14_19994274fwd/C/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct04/22/1004/22/10132Genomicunknown
ss2364520901000GENOMES|pilot_1_CEU_6056719_chr14_19994274fwd/C/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct05/01/1005/01/10132Genomicunknown
ss2429051281000GENOMES|pilot_1_CHB+JPT_4790205_chr14_19994274fwd/C/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct05/01/1005/01/10132Genomicunknown
ss254819326BL|SNP2966_14_19994274fwd/BC/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct08/19/1008/19/10134Genomicunknown
ss281912638GMI|GMI_AK_SNP_6233027fwd/C/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct12/16/1012/16/10137Genomicunknown
ss286799426GMI|GMI_NA10851_SNP_2812217fwd/C/Tttgtatttcctaaatgtctgttccttcactccattgccattttcttttttagtgttctct12/17/1012/17/10138Genomicunknown
ss480762704ILLUMINA|HumanOmni2.5-4v1_B_rs3136817-128_B_F_1735667828fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt01/30/1210/28/16137Genomicunknown
ss480778504ILLUMINA|HumanOmniExpress-12v1_C_rs3136817-131_B_F_1849340724fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt01/30/1210/27/16137Genomicunknown
ss481671957ILLUMINA|HumanOmni1-Quad_v1-0_C_rs3136817-131_B_F_1864639382fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt01/30/1208/28/15146Genomicunknown
ss485176070ILLUMINA|HumanOmni2.5-4v1_D_rs3136817-131_B_F_1849340724fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt01/30/1210/27/16137Genomicunknown
ss537165872ILLUMINA|HumanOmni5-4v1_B_rs3136817-131_B_F_1894977788fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt06/22/1208/29/15146Genomicunknown
ss563954405TISHKOFF|snp_chr14_20924434fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt11/22/1211/23/12138Genomicunknown
ss659613648SSMP|14_20924434fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt12/14/1202/13/15138Genomicunknown
ss778516880ILLUMINA|HumanOmni25Exome-8v1_A_rs3136817-131_B_F_1864639382fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/30/1307/10/15142Genomicunknown
ss783034213ILLUMINA|HumanOmni2.5-4v1_H_rs3136817-131_B_F_1849340724fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/30/1307/29/15142Genomicunknown
ss783993802ILLUMINA|HumanOmniExpressExome-8v1_A_rs3136817-131_B_F_1894977788fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/31/1306/18/15142Genomicunknown
ss832291858ILLUMINA|HumanOmniExpress-12v1_H_rs3136817-131_B_F_1849340724fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt09/17/1306/18/15144Genomicunknown
ss833973223ILLUMINA|HumanOmni2.5-8v1_A_rs3136817-131_B_F_1864639382fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt09/18/1307/29/15142Genomicunknown
ss990902310EVA-GONL|EVA-GONL_rs3136817fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt04/23/1404/25/14142Genomicunknown
ss1079471617JMKIDD_LAB|HGDP_WGS_chr14_20924434fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt07/10/1407/12/14142Genomicunknown
ss13500989161000GENOMES|PHASE3_V1_63286181fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt08/16/1408/16/14142Genomicunknown
ss1397673033HAMMER_LAB|HAMMER_LAB_rs3136817fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt09/30/1409/30/14146Genomicunknown
ss1427348706DDI|DDI_rs3136817fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt11/04/1411/04/14144Genomicunknown
ss1577105561EVA_GENOME_DK|EVA_GENOME_DK_snv_rs3136817fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt02/19/1502/19/15144Genomicunknown
ss1631260696EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_14_20924434_35020620fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt03/04/1503/04/15144Genomicunknown
ss1674254729EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_14_20924434_35020620fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt03/04/1503/04/15144Genomicunknown
ss1694892461EVA_DECODE|EVA_DECODE_14_19994274_7575_rs3136817fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt03/02/1503/04/15144Genomicunknown
ss1713427604EVA_SVP|EVA_SVP_1121971fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt03/12/1503/12/15144Genomicunknown
ss1752123535ILLUMINA|OmniExpressExome-8v1-1_B_rs3136817-131_B_F_1894977788fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/27/1506/09/15146Genomicunknown
ss1807819093HAMMER_LAB|Hsieh_6842561fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt07/15/1507/16/15146Genomicunknown
ss1934278787WEILL_CORNELL_DGM|SNV:chr14:20924434fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt10/16/1510/17/15147Genomicunknown
ss2027913164JJLAB|SNP8415719fwd/BC/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt08/29/1608/31/16149Genomicunknown
ss2156283946USC_VALOUEV|NC_000014.8:g.20924434T>Cfwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt11/17/1611/17/16150Genomicunknown
ss2200131595HUMAN_LONGEVITY|HLI-14-20456275-T-Cfwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt11/18/1611/18/16150Genomicunknown
ss2364398978TOPMED|14_20924434_T/Cfwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt11/19/1611/19/16150Genomicunknown
ss2633122218ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs3136817-131_B_F_18949777fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt02/02/1702/02/17151Genomicunknown
ss2700696948GRF|rs3136817fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt02/13/1702/13/17151Genomicunknown
ss2925119319GNOMAD|rs3136817fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/23/1705/23/17151Genomicunknown
ss2985013622AFFY|Axiom_PsorMich_Affx-10229895fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/24/1705/24/17151Genomicunknown
ss2985649157AFFY|Axiom_Smokesc1_Affx-10229895fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/24/1705/24/17151Genomicunknown
ss3011829226SWEGEN|NC_000014.8:g.20924434T>Cfwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt05/30/1705/30/17151Genomicunknown
ss3027778461BIOINF_KMB_FNS_UNIBA|14.20456275T>Cfwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt07/05/1707/05/17151Genomicunknown
ss3205273796TOPMED|TOPMed_freeze_5?chr14:20,456,275fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt10/01/1710/01/17151Genomicunknown
ss3350697835CSHL|rs3136817fwd/C/Ttttcctaaatgtctgttccttcactccattgccattttcttttttagtgt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3136817|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TAAGTACGGG CCGACTCATT TTTGCAGGGG TTTGTGAAGA AGTCGCAGGA ACCGTAGGCT
 TTCGTTGGGT CTATAGTTAA CGCCGGATCG CAGTTGGAAA CCACCAGCTT TTTGTCAGTA
 TATATTACTC ATTTTATAGA GCCAGAGGCC AAGAAGAGTA AGACGGCCGC AAAGAAAAAT
 GACAAAGAGG CAGCAGGAGA GGGCCCAGCC CTGTATGAGG ACCCCCCAGA TCAGAAAACC
 TCACCCAGTG GCAAACCTGC CACACTCAAG ATCTGCTCTT GGAATGTGGA TGGGCTTCGA
 GCCTGGATTA AGAAGAAAGG ATTAGATGTG AGTGGAATTT GAGGGAAAGA GACATTTTTT
 AGTATTGAAT GGTCTTAGGG TTTAGTCACC CCTTTTCTCC GTTTAGCCTT CAGGCTGTTT
 TATTTTTCTC CTGCCCGTAG TTTTCTGTGG GGCTTCCCCA GTCTTGCCAG TTGTATTTCC
 TAAATGTCTG TTCCTTCACT
 Y
 CCATTGCCAT TTTCTTTTTT AGTGTTCTCT CCTCTTCCCA GAATGTTGCA AAAACCTCTT
 CACTATACTT CCTCCATTTT ATCTTCCTGC ATTGCATTCC ATATGAAGCA TGTCCTCCAT
 TCCATTAACC ATAGCTTAAA AATCTTAGCT TGCTATCCAC TGCCTATAGA AAAAACACAT
 CTCCTTGGCA TAGCATGTAA GACTTTCTTA CCTCTCTATA TTTGTTTTCA TTTATCTAGC
 TTAGAATTGT TTGAATATTG TGCTGCTTGA CTCGAACTCC TTAGGCCAAG AGACTGTTTA
 ACCCGTGCGT ATCTATGACT TAGCATATAG ATTATTCAAT AAATGTTCTG CTGAATTGAT
 AATACGTTTT CCACCTTTCT TTTCACTTAC AGTGGGTAAA GGAAGAAGCC CCAGATATAC
 TGTGCCTTCA AGAGACCAAA TGTTCAGAGA ACAAACTACC AGCTGAACTT CAGGAGCTGC
 CTGGACTCTC TCATCAATAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_026437.11
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
ss1350098916EAS 1008AF 0.112100010.88789999
EUR 1006AF 0.295199990.70480001
AFR 1322AF 0.151300000.84870005
AMR 694AF 0.242099990.75790000
SAS 978AF 0.128800000.87120003
ss199788010BANTU 2IG 1.00000000 0.500000000.50000000
ss226447797pilot_1_YRI_low_coverage_panel 118AF 0.118644070.88135594
ss236452090pilot_1_CEU_low_coverage_panel 120AF 0.250000000.75000000
ss242905128pilot_1_CHB+JPT_low_coverage_panel 120AF 0.158333330.84166664
ss4385207PDR90Global 166IG0.060240970.325301200.614457850.583882000.222891570.77710843
HapMap-CEUEuropean 226IG0.097345140.362831860.539823000.317310000.278761060.72123891
HapMap-HCBAsian 86IG 0.348837200.651162800.438578000.174418600.82558137
HapMap-JPTAsian 172IG0.011627910.302325580.686046540.317310000.162790700.83720928
HapMap-YRISub-Saharan African 226IG0.035398230.238938050.725663720.371093000.154867260.84513277
HAPMAP-ASW 98IG 0.265306120.734693880.654721000.132653060.86734694
HAPMAP-CHBAsian 78IG0.025641030.128205140.846153860.200325000.089743590.91025639
HAPMAP-CHD 166IG0.024096380.120481930.855421660.050043000.084337350.91566265
HAPMAP-GIH 176IG0.022727270.227272730.750000000.751830000.136363640.86363637
HAPMAP-LWK 180IG0.055555560.400000010.544444440.654721000.255555570.74444443
HAPMAP-MEX 100IG0.080000000.460000010.460000010.654721000.310000000.69000000
HAPMAP-MKK 284IG0.035211270.401408460.563380300.200325000.235915500.76408452
HAPMAP-TSI 176IG0.079545450.386363630.534090941.000000000.272727280.72727275
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.296+/-0.2460000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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