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Reference SNP (refSNP) Cluster Report: rs68157013                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.3364/32264 (ExAC)
C=0.3784/1895 (1000 Genomes)
G=0.2358/29610 (TOPMED)
HGVS Names
  • CM000674.2:g.11092126C>G
  • NC_000012.11:g.11244725C>G
  • NC_000012.12:g.11092126C>G
  • NM_001291314.1:c.-294-44938G>C
  • NM_001291315.1:c.-133-44938G>C
  • NM_001316893.1:c.-133-44938G>C
  • NM_176884.2:c.104G>C
  • NP_795365.2:p.Trp35Ser
  • NR_037918.2:n.205-44938G>C
  • NR_133575.1:n.203-44938G>C
  • NT_187658.1:g.292683C>G
  • NW_003571050.1:g.290853G=
  • NW_003571050.1:g.290853G>C
  • XP_003961040.2:p.Trp35Ser
  • XP_003961040.4:p.Trp35Ser
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 ss281275219 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs68157013 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
ss97206440HUMANGENOME_JCVI|1103649367599fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc03/28/0803/28/08130Genomicunknown
ss106787244BGI|BGI_YHSNP0031654fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc09/16/0810/21/09130Genomicunknown
ss157113752GMI|GMI_SNP_31032480fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc06/24/0906/25/09131Genomicunknown
ss167791178COMPLETE_GENOMICS|NA07022_36_chr12_11135992fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc09/30/0909/30/09132Genomicunknown
ss170405752COMPLETE_GENOMICS|NA20431_36_chr12_11135992fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc10/01/0910/05/09132Genomicunknown
ss2358242781000GENOMES|pilot_1_CEU_5428907_chr12_11135992fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc05/01/1005/01/10132Genomicunknown
ss2424031521000GENOMES|pilot_1_CHB+JPT_4288229_chr12_11135992fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc05/01/1005/01/10132Genomicunknown
ss281275219GMI|GMI_AK_SNP_5595608fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc12/16/1012/16/10137Genomicunknown
ss286506389GMI|GMI_NA10851_SNP_2519180fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc12/17/1012/17/10138Genomicunknown
ss291380180PJP|SNP_886538_chr12_11135992fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc01/21/1101/21/11134Genomicunknown
ss491464500EXOME_CHIP|nonsyn_180726_chr_12_11244725fwd/C/Gtcagcaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctatgaagc03/05/1203/05/12137Genomicunknown
ss491660731CLINSEQ_SNP|SNV-chr12-11135992byFreqfwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat03/06/1209/05/14137Genomicunknown
ss562992732TISHKOFF|snp_chr12_11244725fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat11/22/1211/23/12138Genomicunknown
ss989238247EVA-GONL|EVA-GONL_rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat04/23/1404/25/14142Genomicunknown
ss13439124661000GENOMES|PHASE3_V1_56828256fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat08/16/1408/16/14142Genomicunknown
ss1426844492DDI|DDI_rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat11/04/1411/04/14144Genomicunknown
ss1576113403EVA_GENOME_DK|EVA_GENOME_DK_snv_rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat02/19/1502/19/15144Genomicunknown
ss1690796467EVA_EXAC|EVA_EXAC_6013777fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat03/04/1503/04/15144Genomicunknown
ss1711321396EVA_MGP|EVA_XIMO_437156fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat03/09/1503/09/15144Genomicunknown
ss1932603923WEILL_CORNELL_DGM|SNV:chr12:11244725fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat10/16/1510/17/15147Genomicunknown
ss1967523082GENOMED|rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat02/16/1602/16/16147Genomicunknown
ss2155370660USC_VALOUEV|NC_000012.11:g.11244725C>Gfwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat11/17/1611/17/16150Genomicunknown
ss2628002313SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4796687fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat01/06/1701/06/17151Genomicunknown
ss2699695622GRF|rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat02/13/1702/13/17151Genomicunknown
ss2739640835GNOMAD|exomes_rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat05/17/1705/17/17151Genomicunknown
ss2748815952GNOMAD|coding_rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat05/17/1705/17/17151Genomicunknown
ss2907343398GNOMAD|rs68157013fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat05/22/1705/22/17151Genomicunknown
ss3009208634SWEGEN|NC_000012.11:g.11244725C>Gfwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat05/30/1705/30/17151Genomicunknown
ss3023067492EVA_SAMSUNG_MC|EXOMES.12:g11244725c>gfwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat07/03/1707/03/17151Genomicunknown
ss3027328505BIOINF_KMB_FNS_UNIBA|12.11092126C>Gfwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat07/05/1707/05/17151Genomicunknown
ss3162953264TOPMED|TOPMed_freeze_5?chr12:11,092,126fwd/C/Gaaaggagatcttttgtctcttgaacactcaatggaatttaccagtgctat09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs68157013|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 AAGAACAGAT TAACAGCATA AAAGATAGTA GGGTCAGAGT GAAGGGTACT AAGTTTGCTA
 CCATGGTTAC AGTCATATTT GAAAAGTACA TTGCACTCTT CAATTTGATC TTCCAAGTCA
 TGTTTCCTTC AAATTCTTTT GTCCGCACAA TCTCATTCAT GTTTATCACA AAAAGATGAC
 AAGCCAAAAA TAGCAAAGGC CCCAACAACA TCACCAGAAT GACACTCTTA ACTCTCCTCT
 TTAAGTGAAG AAAAATAAAG TTGGAGAAAT TGGCAATCTT GAGCAAATAA AATATGCTGA
 GGGTAGTAGC AAGCCAGTTG CTGAAATGGT TGATCACTGC CCAGATATTA TAAGCAGTAG
 TTCTTACTTC TACACTATTA AAAGCTGGAT TCAACACAGT TGAATACCAG TTTAATAATA
 ATACCCAGAG CAAACCAACT CTGGAGACCG CCAGAGCAGT GAGAATTTGG TCAGCAAAGG
 AGATCTTTTG TCTCTTGAAC
 S
 ACTCAATGGA ATTTACCAGT GCTATGAAGC CATTAGCAAA ATTTCCAATA ACAAATGTAA
 CCACTACCAG ACTGGAAAAA ATGATGGGTA GAAAAGTTAT CATGTCTGAA CAGACAAAAA
 AAATTTTTTT AAATGCTGGT GTTGTGTCCG GAATTGGTTC CTGCAGGTGG GTTCGTGGTC
 TCGCTGACTT CAAAAGGGAG CCACTGACCT TCACGGTGAG TGTTGCTGCT CTTAAAGATG
 GTGTGGACCC AAAGAGTGAG CAACAGCAAG GTTTATTGAG AAGAGAGAAA GGACAAAGCT
 TCCACAGAGT GAAAGGCAAC CCAGGTAGGT TGCCGCGGCT GGCTGAAGCC ATGAGCTTTT
 ATTCCCTTAT TTGTCCCCTC CCATTTTCCT TTTTTGTCCT ATCAGAGTGC CCTTTTATCA
 ATCCTCCCTC CGACTGGCTA CTTTTAGGAT CCTGTTGATT GGTGCATTTT AGAGCGATTG
 GTGCATTTTA CAATCCTCTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000012 ABBA01067811
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/G
G/G
HWPC
G
ss1343912466EAS 1008AF 0.057500000.94250000
EUR 1006AF 0.247500000.75250000
AFR 1322AF 0.902399960.09760001
AMR 694AF 0.288199990.71179998
SAS 978AF 0.199399990.80059999
ss167791178CEUEuropean 2IG 1.00000000 1.00000000
ss1690796467ExAc_Aggregated_Populations102716AF 0.367673960.63232601
ss170405752PGP 2IG 1.00000000 1.00000000
ss235824278pilot_1_CEU_low_coverage_panel 120AF 0.491666670.50833333
ss242403152pilot_1_CHB+JPT_low_coverage_panel 120AF 0.033333340.96666664
ss491660731CSAgilent 283GF0.549000020.45100001 0.050043000.774500010.22550000
ss97206440J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.447+/-0.1550000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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