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Reference SNP (refSNP) Cluster Report: rs201893287                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:unknown
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:C=0.00009/8 (ExAC)
C=0.0002/2 (GO-ESP)
C=0.00007/9 (TOPMED)
HGVS Names
  • CM000685.2:g.18604447T>C
  • NC_000023.10:g.18622567T>C
  • NC_000023.11:g.18604447T>C
  • NG_008475.1:g.183843T>C
  • NM_001037343.1:c.1523T>C
  • NM_001323289.1:c.1523T>C
  • NM_003159.2:c.1523T>C
  • NP_001032420.1:p.Ile508Thr
  • NP_001310218.1:p.Ile508Thr
  • NP_003150.1:p.Ile508Thr
  • XP_005274641.1:p.Ile508Thr
  • XP_005274642.1:p.Ile491Thr
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 ss491575364 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs201893287 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
ss491575364EXOME_CHIP|nonsyn_291590_chr_X_18622567fwd/BC/Ttgagcaacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtacttccc03/05/1203/06/12137Genomicunknown
ss491949125CLINSEQ_SNP|SNV-chrX-18532488fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac03/06/1203/13/12137Genomicunknown
ss538296823CHWRETT|CDKL5: c.1523T>Cfwd/BC/Ttgagcaacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtacttccc08/08/1208/08/12137Genomicunknown
ss713644572NHLBI-ESP|ESP6500SI-chrX-18622567fwd/BC/Ttgagcaacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtacttccc02/20/1302/20/13138Genomicunknown
ss780765115ILLUMINA|HumanOmni25Exome-8v1_A_exm1630280-0_T_R_1922020944fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/30/1307/09/15146Genomicunknown
ss783444407ILLUMINA|HumanOmniExpressExome-8v1_A_exm1630280-0_T_R_1922020944fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/31/1306/19/15146Genomicunknown
ss1640415933EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18622567_45113816fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac03/04/1503/04/15144Genomicunknown
ss1683409966EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18622567_45113816fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac03/04/1503/04/15144Genomicunknown
ss1694468602EVA_EXAC|EXAC_0.3.X:g18622567t>cfwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac03/04/1503/04/15144Genomicunknown
ss1752802261ILLUMINA|OmniExpressExome-8v1-1_B_exm1630280-0_T_R_1922020944fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/27/1506/09/15146Genomicunknown
ss1917716304ILLUMINA|HumanExome-12v1-1_B_exm1630280-0_T_R_1922020944fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac10/16/1510/16/15147Genomicunknown
ss1945969513ILLUMINA|HumanCoreExome-12v1-0_C_exm1630280-0_T_R_1922020944fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac10/29/1510/29/15147Genomicunknown
ss1958178803ILLUMINA|exm1630280-0_T_R_1922020944fwd/BC/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac11/13/1511/13/15147Genomicunknown
ss2316004447HUMAN_LONGEVITY|HLI-X-18604447-T-Cfwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac11/18/1611/18/16150Genomicunknown
ss2745323537GNOMAD|exomes_rs201893287fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/17/1705/17/17151Genomicunknown
ss2746082265GNOMAD|coding_rs201893287fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/17/1705/17/17151Genomicunknown
ss2976934775GNOMAD|rs201893287fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/23/1705/23/17151Genomicunknown
ss2985481515AFFY|Axiom_PsorMich_Affx-52307270fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac05/24/1705/24/17151Genomicunknown
ss3022993143ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1630280-0_T_R_1922020944fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac06/28/1706/28/17151Genomicunknown
ss3606386159TOPMED|TOPMed_freeze_5?chrX:18,604,447fwd/C/Taacctttctgaagccagggcccaaatgcggagcccagtaccagtaggtac10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs201893287|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GCAGAACCGC CACTCATTCA TGGAAAGCTC TCAAAGCAAA GCTGGGACAC TGCAGCCCAA
 TGAAAAGCAG AGTCGGCATA GCTATATTGA CACAATTCCC CAGTCCTCTA GGAGTCCCTC
 CTACAGGACC AAGGCCAAAA GCCATGGGGC ACTGAGTGAC TCCAAGTCTG TGAGCAACCT
 TTCTGAAGCC AGGGCCCAAA
 Y
 TGCGGAGCCC AGTACCAGTA GGTACTTCCC ATCTAGCTGC TTAGACTTGA ATTCTCCCAC
 CAGCCCAACC CCCACCAGAC ACAGTGACAC GAGAACTTTG CTCAGCCCTT CTGGAAGAAA
 TAACCGAAAT GAGGGAACGC TGGACTCACG TCGAACCACA ACCAGACATT CTAAGACGAT
 GGAGGAATTG AAGCTGCCGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1694468602ExAc_Aggregated_Populations121412AF 0.000074130.99992585

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0100000

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

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