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Reference SNP (refSNP) Cluster Report: rs79420812                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1841/22317 (ExAC)
T=0.1829/916 (1000 Genomes)
T=0.1494/1943 (GO-ESP)
T=0.1509/18952 (TOPMED)
HGVS Names
  • CM000674.2:g.10997455C>T
  • NC_000012.11:g.11150054C>T
  • NC_000012.12:g.10997455C>T
  • NG_051254.1:g.5850G>A
  • NM_001291314.1:c.-125-23734G>A
  • NM_001291315.1:c.37-23734G>A
  • NM_001316893.1:c.141-23734G>A
  • NM_176889.3:c.421G>A
  • NP_795370.2:p.Val141Ile
  • NR_037918.2:n.478-23734G>A
  • NR_133575.1:n.372-23734G>A
  • NT_187658.1:g.196150C>T
  • NW_003571047.1:g.196161C>T
  • NW_003571050.1:g.196161C>T
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 ss281274075 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs79420812 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
ss103023752BGI|BGI_YHSNP0031492fwd/BC/Ttatacgtgtttttcatcacaagttgacaaacaaaaagaacaaagaccccaacactatcac06/05/0810/21/09131Genomicunknown
ss157110108GMI|GMI_SNP_114828996fwd/BC/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac06/24/0906/25/09131Genomicunknown
ss159725715SEATTLESEQ|TAS2R49-11041321fwd/BC/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac07/10/0907/10/09131Genomicunknown
ss161044191ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP12-11041321-128_T_R_1587220122rev/TA/Ggtgatagtgttggggtctttgttctttttgtttgtcaccttgtgatgaaacacacgtata08/04/0910/05/09131Genomicunknown
ss2256053061000GENOMES|pilot_1_YRI_7414989_chr12_11041321fwd/C/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac04/22/1004/22/10132Genomicunknown
ss2358223471000GENOMES|pilot_1_CEU_5426976_chr12_11041321fwd/C/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac05/01/1005/01/10132Genomicunknown
ss2424014621000GENOMES|pilot_1_CHB+JPT_4286539_chr12_11041321fwd/C/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac05/01/1005/01/10132Genomicunknown
ss281274075GMI|GMI_AK_SNP_5594464fwd/C/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac12/16/1012/16/10137Genomicunknown
ss342349985NHLBI-ESP|ESP2500-chr12-11150054byFreqfwd/BC/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac03/25/1109/05/14134Genomicunknown
ss479386557ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp3082454-0_T_R_1804980451fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact01/30/1208/28/15146Genomicunknown
ss4910371081000GENOMES|20110521_exome_544906_chr12_11150054fwd/BC/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac02/10/1202/22/12137Genomicunknown
ss491464361EXOME_CHIP|nonsyn_180587_chr_12_11150054fwd/BC/Ttatacgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacactatcac03/05/1203/05/12137Genomicunknown
ss491660647CLINSEQ_SNP|SNV-chr12-11041321byFreqfwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact03/06/1209/05/14137Genomicunknown
ss535307301ILLUMINA|HumanOmni5-4v1_B_kgp3082454-0_T_R_1804980451fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact06/22/1208/29/15146Genomicunknown
ss562992201TISHKOFF|snp_chr12_11150054fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact11/22/1211/23/12138Genomicunknown
ss658523786SSMP|12_11150054fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact12/14/1202/13/15138Genomicunknown
ss780908153ILLUMINA|HumanOmni25Exome-8v1_A_exm984299-0_T_R_1922544574fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/30/1307/10/15146Genomicunknown
ss783595603ILLUMINA|HumanOmniExpressExome-8v1_A_exm984299-0_T_R_1922544574fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/31/1306/18/15146Genomicunknown
ss989237366EVA-GONL|EVA-GONL_rs79420812fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact04/23/1404/25/14142Genomicunknown
ss1067531718JMKIDD_LAB|HGDP_exomes_chr12_11150054fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact07/09/1407/09/14142Genomicunknown
ss13439097711000GENOMES|PHASE3_V1_56825446fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact08/16/1408/16/14142Genomicunknown
ss1426843541DDI|DDI_rs79420812fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact11/04/1411/04/14144Genomicunknown
ss1576112913EVA_GENOME_DK|EVA_GENOME_DK_snv_rs79420812fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact02/19/1502/19/15144Genomicunknown
ss1598906635EVA_DECODE|EVA_DECODE_12_11041321_86056_rs79420812fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact03/02/1503/04/15144Genomicunknown
ss1628011348EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11150054_31435918fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact03/04/1503/04/15144Genomicunknown
ss1671005381EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11150054_31435918fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact03/04/1503/04/15144Genomicunknown
ss1690795287EVA_EXAC|EVA_EXAC_6012507fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact03/04/1503/04/15144Genomicunknown
ss1711321241EVA_MGP|EVA_XIMO_437001fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact03/09/1503/09/15144Genomicunknown
ss1752046430ILLUMINA|OmniExpressExome-8v1-1_B_exm984299-0_T_R_1922544574fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/27/1506/09/15146Genomicunknown
ss1917870890ILLUMINA|HumanExome-12v1-1_B_exm984299-0_T_R_1922544574fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact10/16/1510/16/15147Genomicunknown
ss1932602915WEILL_CORNELL_DGM|SNV:chr12:11150054fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact10/16/1510/17/15147Genomicunknown
ss1946331637ILLUMINA|HumanCoreExome-12v1-0_C_exm984299-0_T_R_1922544574fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact10/29/1510/29/15147Genomicunknown
ss1959413375ILLUMINA|exm984299-0_T_R_1922544574fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact11/13/1511/13/15147Genomicunknown
ss1967522459GENOMED|rs79420812fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact02/16/1602/16/16147Genomicunknown
ss2027045971JJLAB|SNP7548526fwd/BC/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact08/29/1608/30/16149Genomicunknown
ss2155368699USC_VALOUEV|NC_000012.11:g.11150054C>Tfwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact11/17/1611/17/16150Genomicunknown
ss2187770086HUMAN_LONGEVITY|HLI-12-10997455-C-Tfwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact11/18/1611/18/16150Genomicunknown
ss2351407831TOPMED|12_11150054_C/Tfwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact11/19/1611/19/16150Genomicunknown
ss2628001760SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795777fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact01/06/1701/06/17151Genomicunknown
ss2699693765GRF|rs79420812fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact02/13/1702/13/17151Genomicunknown
ss2739639347GNOMAD|exomes_rs79420812fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/17/1705/17/17151Genomicunknown
ss2748815260GNOMAD|coding_rs79420812fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/17/1705/17/17151Genomicunknown
ss2907331404GNOMAD|rs79420812fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/22/1705/22/17151Genomicunknown
ss3009203927SWEGEN|NC_000012.11:g.11150054C>Tfwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact05/30/1705/30/17151Genomicunknown
ss3021406085ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984299-0_T_R_1922544574fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact06/28/1706/28/17151Genomicunknown
ss3027327559BIOINF_KMB_FNS_UNIBA|12.10997455C>Tfwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact07/05/1707/05/17151Genomicunknown
ss3162930385TOPMED|TOPMed_freeze_5?chr12:10,997,455fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact09/30/1709/30/17151Genomicunknown
ss3349923136CSHL|rs79420812fwd/C/Tgtgtgtttcatcacaaggtgacaaacaaaaagaacaaagaccccaacact10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs79420812|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGACTGGTTC TGTCCTTTTG CCCAGCAAGT CACCTGCCAC AAAACTGAAA GAAAGGTCTG
 CTTTAGCGTC TTGTTCCCCC AAATCAGAAT GAATGAGTGG AATGATGGAT ATATGATTCC
 AAAAGCTTGG CAAAGCATTA AGACAATTTC TTTTGGTCGC ATCTTAAAAT TCCAAAACGA
 TATGATTAGA CACAGAAAGT AAATGGCAAG TAATATGAGG AAGGAGGTCA CAGTTTGCAG
 AGCTTTTATG TGGATCTTGG TGCTGGGATC TTGAGATCCT TTGCCATGGA GCTGCATCTT
 CTTCAGATGT TTACACAGAG AGTAGATTAA CAGCAGAAAA GATATCAGGG TCAGAGTGAA
 TGGTATCAAG TTTGCTAGCA TGGCTACAGT CAAGTTGGAA AGGTGCATTG CATTCCTCAG
 TTTGATCTTC CAAGTTACGT TTCCTTCACA TTCTTCTGTC CACACATTTA TATACGTGTG
 TTTCATCACA AGGTGACAAA
 Y
 CAAAAAGAAC AAAGACCCCA ACACTATCAC CAGAACTACA CTCTTAGCCT TCCTTTTTAA
 GTGATGAAAA ATAAGTCTGG AGAAATTGAC GATCTTGAGC AAATAAAATA TGCTGAGGCT
 AGTAGCAAGC CAGATGCTGA AATGATTGGT TACTGCCCAG GCATTAGAAA TAAAAATTAT
 TACTTTTAAA TTAGATGAAG TTGGATTCAA CACAGTTGAA TACCAATGTA ATAATATTAC
 CCAGAGCAAA CCAACTCTGG AGACTGCCAG AGCAGCAATA ATTTGATCAG CTGAGGAGAT
 CTTTTGTCTC TTGACCCAGG CAATGAAATT TATCAGTGCT ATAAAGCCAT TGGCAAAATT
 TCCAAGAATA AATGCAACCA CTACTAGAAT GGAAAAAACA ATGTGTAGAA AACTCATCAT
 GTCTAAACAA AAAAGCAAGT AAAAAATTCA GGCCTAATGT CACTGATGGT GACTCCTCTG
 ATATTCAAGA CTTTAAGTTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000012
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
ss1343909771EAS 1008AF 0.681500020.31850001
EUR 1006AF 0.777300000.22270000
AFR 1322AF 0.962900040.03710000
AMR 694AF 0.877500000.12250000
SAS 978AF 0.757699970.24230000
ss1690795287ExAc_Aggregated_Populations121410AF 0.815954210.18404579
ss225605306pilot_1_YRI_low_coverage_panel 118AF 0.966101710.03389831
ss235822347pilot_1_CEU_low_coverage_panel 120AF 0.808333340.19166666
ss242401462pilot_1_CHB+JPT_low_coverage_panel 120AF 0.791666690.20833333
ss342349985ESP_Cohort_Populations 4548GF0.743623550.232189970.024186450.099721000.859718560.14028144
ss491660647CSAgilent 1321GF0.637000020.331000000.032000000.273322000.802500010.19750001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.300+/-0.2450000

  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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