NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs71443637                 
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/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.4337/45345 (ExAC)
T=0.3782/1894 (1000 Genomes)
C=0.2347/29469 (TOPMED)
HGVS Names
  • CM000674.2:g.11091595T>C
  • NC_000012.11:g.11244194T>C
  • NC_000012.12:g.11091595T>C
  • NM_001291314.1:c.-294-44407A>G
  • NM_001291315.1:c.-133-44407A>G
  • NM_001316893.1:c.-133-44407A>G
  • NM_176884.2:c.635A>G
  • NP_795365.2:p.His212Arg
  • NR_037918.2:n.205-44407A>G
  • NR_133575.1:n.203-44407A>G
  • NT_187658.1:g.292152T>C
  • NW_003571050.1:g.290322C=
  • NW_003571050.1:g.290322C>T
  • XP_003961040.2:p.His212Arg
  • XP_003961040.4:p.His212Arg
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 ss281275207 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs71443637 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
ss97206439HUMANGENOME_JCVI|1103649367598fwd/BC/Tttcgtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca03/28/0803/28/08130Genomicunknown
ss103023964BGI|BGI_YHSNP0031652fwd/BC/Tttsgtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca06/05/0810/21/09130Genomicunknown
ss143411383ENSEMBL|ENSSNP8450539fwd/BC/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca12/08/0810/19/09131Genomicunknown
ss157113734GMI|GMI_SNP_30747025fwd/BC/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca06/24/0906/25/09131Genomicunknown
ss167791161COMPLETE_GENOMICS|NA07022_36_chr12_11135461fwd/BC/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca09/30/0909/30/09132Genomicunknown
ss281275207GMI|GMI_AK_SNP_5595596fwd/C/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca12/16/1012/16/10137Genomicunknown
ss286506384GMI|GMI_NA10851_SNP_2519175fwd/C/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca12/17/1012/17/10138Genomicunknown
ss291380179PJP|SNP_886537_chr12_11135461fwd/C/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca01/21/1101/21/11134Genomicunknown
ss3371560651000GENOMES|20100804_snps_8799606_chr12_11244194fwd/C/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca03/22/1103/22/11134Genomicunknown
ss491464464EXOME_CHIP|nonsyn_180690_chr_12_11244194fwd/BC/Tttggtgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgtttacaca03/05/1203/05/12137Genomicunknown
ss491660715CLINSEQ_SNP|SNV-chr12-11135461byFreqfwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt03/06/1209/05/14137Genomicunknown
ss658524722SSMP|12_11244194fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt12/14/1202/13/15138Genomicunknown
ss989238240EVA-GONL|EVA-GONL_rs71443637fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt04/23/1404/25/14142Genomicunknown
ss13439124481000GENOMES|PHASE3_V1_56828236fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt08/16/1408/16/14142Genomicunknown
ss1426844473DDI|DDI_rs71443637fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt11/04/1411/04/14144Genomicunknown
ss1576113402EVA_GENOME_DK|EVA_GENOME_DK_snv_rs71443637fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt02/19/1502/19/15144Genomicunknown
ss1690796310EVA_EXAC|EVA_EXAC_6013598fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt03/04/1503/04/15144Genomicunknown
ss1711321379EVA_MGP|EVA_XIMO_437139fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt03/09/1503/09/15144Genomicunknown
ss1932603915WEILL_CORNELL_DGM|SNV:chr12:11244194fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt10/16/1510/17/15147Genomicunknown
ss1959413727ILLUMINA|12:11244194-TC-0_T_R_2299323691fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt11/13/1511/13/15147Genomicunknown
ss1967523079GENOMED|rs71443637fwd/BC/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt02/16/1602/16/16147Genomicunknown
ss2155370655USC_VALOUEV|NC_000012.11:g.11244194T>Cfwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt11/17/1611/17/16150Genomicunknown
ss2628002310SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4796681fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt01/06/1701/06/17151Genomicunknown
ss2699695598GRF|rs71443637fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt02/13/1702/13/17151Genomicunknown
ss2739640646GNOMAD|exomes_rs71443637fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt05/17/1705/17/17151Genomicunknown
ss2748815871GNOMAD|coding_rs71443637fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt05/17/1705/17/17151Genomicunknown
ss2907343317GNOMAD|rs71443637fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt05/22/1705/22/17151Genomicunknown
ss3009208590SWEGEN|NC_000012.11:g.11244194T>Cfwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt05/30/1705/30/17151Genomicunknown
ss3021406411ILLUMINA|MEGA_Consortium_v2_15070954_A2_12:11244194-TC-0_T_R_2299323691fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt06/28/1706/28/17151Genomicunknown
ss3023067477EVA_SAMSUNG_MC|EXOMES.12:g11244194t>cfwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt07/03/1707/03/17151Genomicunknown
ss3162953114TOPMED|TOPMed_freeze_5?chr12:11,091,595fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt09/30/1709/30/17151Genomicunknown
ss3349924283CSHL|rs71443637fwd/C/Tgctgggatcttgagatcctttaccaggagctgcatcttcttgagatgttt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs71443637|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AATACACACA CACACACACA CATATATATA TATATATATA TATATATATT TTCTAGACTG
 CCATTGGGTC AAAGACTTTT CTAGGTATAC GTTTGGAAAT TATTCATACA CATACAGTAT
 AGAAAAACCA GTAAGAAATA TAAAATGTTT CATACACCAC CAGTTTGTTT CCTGCTAGAA
 GATACACAAT GCCCCTCTCG TGAATCTATG GAGATGAAGT CTTCTCTCCT TTCACCCAGT
 ACCTCATTTG CCAAAAAACT GAAAGAAAAG TCTGCTTTAG CTTCTTGTTT CCCCAAATCA
 GGATGAATGG GTGGATTGAA GGATAGCTGA ATCTAATAGC TTTGCAGAAC ATGAAGACAG
 GTTTGTTTTC CAGACTTCCA AAACTCCAAA CTGATATCAT TATGGACAGA AAGTAAATGG
 CACATAACAA GAGGAAGGAG ATCACAGTTT GCAAAGCTTT TATGTGGACC TTGGTGCTGG
 GATCTTGAGA TCCTTTACCA
 Y
 GGAGCTGCAT CTTCTTGAGA TGTTTACACA 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

  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/T
T/T
HWPC
T
ss1343912448EAS 1008AF 0.942500000.05750000
EUR 1006AF 0.752500000.24750000
AFR 1322AF 0.099800000.90020007
AMR 694AF 0.710399990.28960001
SAS 978AF 0.799600010.20039999
ss143411383ENSEMBL_Venter 2IG1.00000000 1.00000000
ss167791161CEUEuropean 2IG1.00000000 1.00000000
ss1690796310ExAc_Aggregated_Populations119698AF 0.389856130.61014384
ss491660715CSAgilent 453GF 0.463000000.537000000.004998000.231500000.76850003
ss97206439J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.491+/-0.0660000

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement