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Reference SNP (refSNP) Cluster Report: rs78637571                 
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:A/C/G (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0003/33 (ExAC)
A=0.0006/3 (1000 Genomes)
A=0.0003/32 (TOPMED)
HGVS Names
  • CM000672.2:g.95045951C>A
  • CM000672.2:g.95045951C>G
  • NC_000010.10:g.96805708C>A
  • NC_000010.11:g.95045951C>A
  • NC_000010.11:g.95045951C>G
  • NG_007972.1:g.28547G>C
  • NG_007972.1:g.28547G>T
  • NM_000770.3:c.820G>C
  • NM_000770.3:c.820G>T
  • NM_001198853.1:c.610G>C
  • NM_001198853.1:c.610G>T
  • NM_001198854.1:c.514G>C
  • NM_001198854.1:c.514G>T
  • NM_001198855.1:c.610G>C
  • NM_001198855.1:c.610G>T
  • NP_000761.3:p.Glu274Gln
  • NP_000761.3:p.Glu274Ter
  • NP_001185782.1:p.Glu204Gln
  • NP_001185782.1:p.Glu204Ter
  • NP_001185783.1:p.Glu172Gln
  • NP_001185783.1:p.Glu172Ter
  • NP_001185784.1:p.Glu204Gln
  • NP_001185784.1:p.Glu204Ter
  • XR_001747030.1:n.1139G>C
  • XR_001747030.1:n.1139G>T
  • XR_246073.1:n.916G>T
  • XR_945610.1:n.916G>C
  • XR_945610.1:n.916G>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 ss491001701 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs78637571 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
ss161036940ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP10-96795698-128_T_F_1588038762fwd/TA/Ctattgaattctgacttttggttgtccttttctagaagtgatttcatgcaattatctgaca08/04/0910/05/09131Genomicunknown
ss3363190551000GENOMES|20100804_snps_7962596_chr10_96805708fwd/A/Ctattgaattctgacttttggttgtccttttctagaagtgatttcatgcaattatctgaca03/22/1103/22/11134Genomicunknown
ss479292520ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp22045513-0_T_F_1840020371fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc01/30/1208/28/15146Genomicunknown
ss4910017011000GENOMES|20110521_exome_509499_chr10_96805708fwd/TA/Ctattgaattctgacttttggttgtccttttctagaagtgatttcatgcaattatctgaca02/10/1202/21/12137Genomicunknown
ss491438657EXOME_CHIP|stopgl_154883_chr_10_96805708fwd/TA/Ctattgaattctgacttttggttgtccttttctagaagtgatttcatgcaattatctgaca03/05/1203/05/12137Genomicunknown
ss507874903GOLDSTEINLAB|10_96795698_Afwd/TA/Ctattgaattctgacttttggttgtccttttctagaagtgatttcatgcaattatctgaca04/06/1204/06/12137Genomicunknown
ss780786795ILLUMINA|HumanOmni25Exome-8v1_A_exm2217697-0_T_F_1960126818fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/30/1307/10/15146Genomicunknown
ss783467399ILLUMINA|HumanOmniExpressExome-8v1_A_exm2217697-0_T_F_1960126818fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/31/1306/18/15146Genomicunknown
ss13386333521000GENOMES|PHASE3_V1_51336404fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc08/16/1408/16/14142Genomicunknown
ss1558274136BGI|AMD_SNP3138fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc02/05/1502/05/15144Genomicunknown
ss1690012991EVA_EXAC|EVA_EXAC_5172038fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc03/04/1503/04/15144Genomicunknown
ss1751988481ILLUMINA|OmniExpressExome-8v1-1_B_exm2217697-0_T_F_1960126818fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/27/1506/09/15146Genomicunknown
ss1917849852ILLUMINA|HumanExome-12v1-1_B_exm2217697-0_T_F_1960126818fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc10/16/1510/16/15147Genomicunknown
ss1946289856ILLUMINA|HumanCoreExome-12v1-0_C_exm2217697-0_T_F_1960126818fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc10/29/1510/29/15147Genomicunknown
ss1959285123ILLUMINA|exm2217697-0_T_F_1960126818fwd/TA/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc11/13/1511/13/15147Genomicunknown
ss2738422354GNOMAD|exomes_rs78637571fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/17/1705/17/17151Genomicunknown
ss2748441935GNOMAD|coding_rs78637571fwd/A/C/Gaattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/17/1705/17/17151Genomicunknown
ss2892154626GNOMAD|rs78637571fwd/A/C/Gaattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/19/1705/19/17151Genomicunknown
ss2984920043AFFY|Axiom_PsorMich_Affx-3895013fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/24/1705/24/17151Genomicunknown
ss2985568350AFFY|Axiom_Smokesc1_Affx-3895013fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc05/24/1705/24/17151Genomicunknown
ss3021265022ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm2217697-0_T_F_1960126818fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc06/28/1706/28/17151Genomicunknown
ss3127581018TOPMED|TOPMed_freeze_5?chr10:95,045,951fwd/A/Caattctgacttttggttgtccttttctagaagtgatttcatgcaattatc09/29/1709/29/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs78637571|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 TGGCACCATC TTCTCAGCAT TGTTCTGAAA TTCACTTTGT TCATCATCTG TGGTCCTACC
 TGTGACCTCT GGGTGCTTCA GCAGGAGCAG GAGTCCATAT CTCAGAGTGG TGCTTGTTGT
 CTCTGTTCCA GCAACAAATA GATCAGCTAC AGTGCCAACC AAGTTTTCAA TATTGAATTC
 TGACTTTTGG TTGTCCTTTT
 V
 CTAGAAGTGA TTTCATGCAA TTATCTGACA AATTATGTGC CAGTATATCT AAATACACTA
 AATTTTAAAA AACATACTAT TTTTTAAAGT TAGCCAAAAG AGATACTGGA CAGTACAGTA
 TTAGAAAAAG CAACTGTGTG GTATGGCAGA AACTGCAGAT CAGTTGACTC AAACTTTATT
 TCCTGACAGA CCTACAAGTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
dbSNP Blast Analysis
3D structure mapping
NP_000761  NP_001185782  NP_001185783  NP_001185784  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
C
ss1338633352EAS 1008AF 0.003000000.99700004
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1690012991ExAc_Aggregated_Populations121410AF 0.000271810.99972820

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0160000

  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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