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Reference SNP (refSNP) Cluster Report: rs144878564                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:maternal
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:C=0.00003/3 (ExAC)
C=0.0003/3 (GO-ESP)
C=0.0001/17 (TOPMED)
HGVS Names
  • CM000685.2:g.18604816T>C
  • NC_000023.10:g.18622936T>C
  • NC_000023.11:g.18604816T>C
  • NG_008475.1:g.184212T>C
  • NM_001037343.1:c.1892T>C
  • NM_001323289.1:c.1892T>C
  • NM_003159.2:c.1892T>C
  • NP_001032420.1:p.Ile631Thr
  • NP_001310218.1:p.Ile631Thr
  • NP_003150.1:p.Ile631Thr
  • XP_005274641.1:p.Ile631Thr
  • XP_005274642.1:p.Ile614Thr
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 ss342550471 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs144878564 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
ss342550471NHLBI-ESP|ESP2500-chrX-18622936fwd/BC/Tgagccaagggcttggatggaagcttgagcaagggcaagggatggcagctagagccaacag03/25/1103/27/11134Genomicunknown
ss491575366EXOME_CHIP|nonsyn_291592_chr_X_18622936fwd/BC/Tgagccaagggcttggatggaagcttgagcaagggcaagggatggcagctagagccaacag03/05/1203/06/12137Genomicunknown
ss538296829CHWRETT|CDKL5: c.1892T>Cfwd/BC/Tgagccaagggcttggatggaagcttgagcaagggcaagggatggcagctagagccaacag08/08/1208/08/12137Genomicunknown
ss780765117ILLUMINA|HumanOmni25Exome-8v1_A_exm1630289-0_B_F_1922045115fwd/BC/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc05/30/1307/09/15142Genomicunknown
ss783444409ILLUMINA|HumanOmniExpressExome-8v1_A_exm1630289-0_B_F_1922045115fwd/BC/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc05/31/1306/19/15142Genomicunknown
ss1694468647EVA_EXAC|EVA_EXAC_9966576fwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc03/04/1503/04/15144Genomicunknown
ss1752802263ILLUMINA|OmniExpressExome-8v1-1_B_exm1630289-0_B_F_1922045115fwd/BC/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc05/27/1506/09/15146Genomicunknown
ss1917716306ILLUMINA|HumanExome-12v1-1_B_exm1630289-0_B_F_1922045115fwd/BC/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc10/16/1510/16/15147Genomicunknown
ss1945969515ILLUMINA|HumanCoreExome-12v1-0_C_exm1630289-0_B_F_1922045115fwd/BC/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc10/29/1510/29/15147Genomicunknown
ss1958178807ILLUMINA|exm1630289-0_B_F_1922045115fwd/BC/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc11/13/1511/13/15147Genomicunknown
ss2316004458HUMAN_LONGEVITY|HLI-X-18604816-T-Cfwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc11/18/1611/18/16150Genomicunknown
ss2486496180TOPMED|X_18622936_T/Cfwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc11/20/1611/20/16150Genomicunknown
ss2745323596GNOMAD|exomes_rs144878564fwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc05/17/1705/17/17151Genomicunknown
ss2985481517AFFY|Axiom_PsorMich_Affx-52307272fwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc05/24/1705/24/17151Genomicunknown
ss3022993148ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1630289-0_B_F_1922045115fwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc06/28/1706/28/17151Genomicunknown
ss3606386191TOPMED|TOPMed_freeze_5?chrX:18,604,816fwd/C/Taagggcttggatggaagcttgagcaagggcaagggatggcagctagagcc10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs144878564|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AATAACCGAA ATGAGGGAAC GCTGGACTCA CGTCGAACCA CAACCAGACA TTCTAAGACG
 ATGGAGGAAT TGAAGCTGCC GGAGCACATG GACAGTAGCC ATTCCCATTC ACTGTCTGCA
 CCTCACGAAT CTTTTTCTTA TGGACTGGGC TACACCAGCC CCTTTTCTTC CCAGCAACGT
 CCTCATAGGC ATTCTATGTA TGTGACCCGT GACAAAGTGA GAGCCAAGGG CTTGGATGGA
 AGCTTGAGCA
 Y
 AGGGCAAGGG ATGGCAGCTA GAGCCAACAG CCTGCAACTC TTGTCACCCC AGGTACAGTT
 GAGCACCTTG ACTGAATCTG GTGGCCCTTC AGGGGAAGGT GGTACGAGGG ATGTGATGAG
 GGTCCATCTA CTATTTTCCC TACTACAGGA GGTTGTGCTT TTCTTGATAG GATGCATTTA
 GGGAAGCAAT ACTTGGCCTA ATCTCTGTTT TTTTGTTTTT TGTTTTTTAA ATCTATTTAG
 ATCAACCGTT

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1694468647ExAc_Aggregated_Populations121412AF 0.000024710.99997526
ss342550471ESP_Cohort_Populations 4546GF 0.000439950.999560061.000000000.000219970.99978000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0060000

  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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