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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs37369          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:76/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_031900.1:c.418G>A
NP_114106.1:p.Val140Ile
NT_006576.15:g.35009872C>T
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss44677186 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs37369 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
ss41617KWOK|OVLP-96802fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg04/28/0010/10/0376Genomic99 %
ss536404SC_JCM|AC010368.3_77036fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg07/12/0010/10/0380Genomicunknown
ss919463KWOK|OVLP-000804-237185fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg09/01/0010/10/0386Genomic99 %
ss1553425LEE|1377470rev/TA/Gagctcggccgcctcgtggatcacaagcacctcttcttccaccctccaatgcatgaatatg09/13/0010/10/03110cDNAunknown
ss3205030YUSUKE|IMS-JST065114byFreqfwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg09/05/0110/10/03100Genomicunknown
ss3595102SC_JCM|AC010368.4_105087rev/TA/Gcagctcggccgcctgtggcatacaagcacctcttcttccaccctccaatgcatgaatatg09/24/0110/10/03100Genomicunknown
ss4435565LEE|e1377470rev/TA/Gagctcggccgcctcgtgnatcacaagcacctcttcttccaccctccaatgcatgaatatg04/26/0210/10/03110cDNAunknown
ss14655015WI_SSAHASNP|chr5.NT_006576.14_17489221byFreqfwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg11/05/0304/07/04119Genomicunknown
ss23986321PERLEGEN|afd3693696byFreqfwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg08/10/0409/13/04123Genomicunknown
ss44677186ABI|hCV11162986byFreqfwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg07/19/0511/03/06126Genomicunknown
ss65727573ILLUMINA|Human1-rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg10/10/0610/10/06127Genomicunknown
ss66681224ILLUMINA|HumanHap300v1.1_rs37369fwd/TC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg11/09/0611/09/06127Genomicunknown
ss67297986ILLUMINA|HumanHap550v1.1_rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg11/14/0611/14/06127Genomicunknown
ss67702536ILLUMINA|HumanHap650Yv1.0_rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg11/14/0611/14/06127Genomicunknown
ss68932149PERLEGEN|PGP03693696byFreqfwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg01/30/0708/14/07127Genomicunknown
ss70776616ILLUMINA|HumanHap550v3.0__rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg04/20/0703/30/08130Genomicunknown
ss71352705ILLUMINA|HumanHap650Yv3.0_rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg04/23/0704/23/07127Genomicunknown
ss74808640AFFY|SNP_M-180506fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg08/09/0708/09/07128Genomicunknown
ss75593641ILLUMINA|ILMN_Human_1M_rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg08/28/0708/29/07129Genomicunknown
ss76432359AFFY|AFFY_6_1M_SNP_A-8293331fwd/BC/Tggagggtggaagaagaggtgcttgtatgccac08/28/0708/30/07129Genomicunknown
ss79163558ILLUMINA|HumanHap300v2.0_rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg04/18/0711/18/07130Genomicunknown
ss83358434KRIBB_YJKIM|KHS442808fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg12/04/0712/04/07130Genomicunknown
ss86237014CORNELL|hCV11162986fwd/TA/Gcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg01/21/0801/21/08129Genomicunknown
ss105919003BGI|BGI_rs37369fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg09/12/0806/18/09130Genomicunknown
ss1089539481000GENOMES|CEU.trio.12.15.2008_1243056_chr5_35072872fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg12/15/0812/16/08130Genomicunknown
ss1116848971000GENOMES|NA19240_2008_12_16_1113672_chr5_35072872fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg12/16/0812/17/08130Genomicunknown
ss116564784ILLUMINA-UK|NA18507_000053695_NCBI36.1_chr5_35072872fwd/BC/Tcatattcatgcattggagggtggaagaagaggtgcttgtatgccacaggcggccgagctg01/17/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs37369|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GGTTTGTTTC GCCAGCAATT CATAAATTCC CTTCTTCTGT CTGATTGCTT TCAGATGTAG
 CTATCAGATC ACCACTACAG ATGTTCAGTG CACAGGCTAA ATTCCCTGCC CATGTCCCTG
 CTTCCTAGGG ACGCTCCCCT AGAATCATAA GACTCCTGTC TCTTTGAGCT GGGAGCATCA
 TACCTTTTTT TCTCCCCCAT AACATTCACC TCCTGCAGGA AGAGCATTGT ACCTTAAGAG
 GCTCAGGAAG AAGTGCGGCA AGCTTCTCTG CATATTCATG CATTGGAGGG TGGAAGAAGA
 Y
 GGTGCTTGTA TGCCACAGGC GGCCGAGCTG CTTTTGTGCC ACTGCATTCA CCTTTCTGGA
 TAAGCAGTAC AGCAGAGTTA CCTGCACTGC GTGCCACGTC CCTCCTGCAC ACACCCTGGT
 CATTGGACCC AAATATACTG TTTTTTCTCA AAGAGTTTCA AGAGGCAGAT TTTATTTACA
 CATGAGAATA AACTCCTTTA ACCACTAGAG GTGTCCAGAA ATGGGATGTG TTGACTTAAA
 AGGTAATGAA TTCCTCTCCA AGAGCAGGGT TCAAAAGGAG ACTCATTGAT TACAAGGGAT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
T72234 AC025447 AC025447.3 Hs.181044
dbSNP Blast Analysis
UniGene Cluster ID
34494

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss14655015 CEPH 184 AF 0.870 0.130
EURAME 28 GF 0.071 0.143 0.786 0.150 0.143 0.857
AFRAME 32 GF 0.375 0.500 0.125 1.000 0.625 0.375
ss23986321 AFD_EUR_PANEL European 48 IG 0.833 0.167 0.752 0.917 0.083
AFD_AFR_PANEL African American 46 IG 0.087 0.522 0.391 0.479 0.348 0.652
AFD_CHN_PANEL Asian 48 IG 0.208 0.542 0.250 0.752 0.479 0.521
ss3205030 JBIC-allele 1498 AF 0.355 0.645
ss44677186 HapMap-CEU European 120 IG 0.783 0.217 0.371 0.892 0.108
HapMap-HCB Asian 90 IG 0.200 0.533 0.267 0.655 0.467 0.533
HapMap-JPT Asian 88 IG 0.091 0.500 0.409 0.479 0.341 0.659
HapMap-YRI Sub-Saharan African 120 IG 0.100 0.400 0.500 0.752 0.300 0.700
AoD_African_American 90 AF 0.450 0.550
AoD_Caucasian 92 AF 0.930 0.070
AoD_Chinese 90 AF 0.400 0.600
AoD_Japanese 90 AF 0.400 0.600
ss68932149 HapMap-CEU European 120 GF 0.783 0.217 0.892 0.108
HapMap-HCB Asian 90 GF 0.178 0.556 0.267 0.456 0.544
HapMap-JPT Asian 90 GF 0.089 0.511 0.400 0.344 0.656
HapMap-YRI Sub-Saharan African 120 GF 0.083 0.417 0.500 0.292 0.708
Concordant Genotype Total Sample C/C C/T T/T
ss23986321 71 27 29 15
ss44677186 1205 438 470 274
ss68932149 268 92 100 76
RefSNP Genotype Summary Total Individual C/C C/T T/T
rs37369 1263 460 506 295
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5144 ss44677186 C/C CSHL-HAPMAP HapMap-YRI NA19192 YOR112.03 r27_ch5_YRI_illumina:human_1m_beadchip
5144 ss68932149 C/T CSHL-HAPMAP HapMap-YRI NA19192 YOR112.03 chr5-HapMap-YRI
5149 ss44677186 C/C CSHL-HAPMAP HapMap-HCB NA18524 CH18524 r27_ch5_CHB_illumina:human_1m_beadchip
5149 ss68932149 C/T CSHL-HAPMAP HapMap-HCB NA18524 CH18524 chr5-HapMap-HCB
Genotype data submitted for1278 samples from1263 individualsIndividual with multiple genotypes submission:276

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .