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rs113487931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113487931(C;T)
Make rs113487931(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765003
GeneTERC
is asnp
is mentioned by
dbSNPrs113487931
ebirs113487931
HLIrs113487931
Exacrs113487931
Varsomers113487931
Maprs113487931
PheGenIrs113487931
hapmaprs113487931
1000 genomesrs113487931
hgdprs113487931
ensemblrs113487931
gopubmedrs113487931
geneviewrs113487931
scholarrs113487931
googlers113487931
pharmgkbrs113487931
gwascentralrs113487931
openSNPrs113487931
23andMers113487931
23andMe allrs113487931
SNP Nexus

SNPshotrs113487931
SNPdbers113487931
MSV3drs113487931
GWAS Ctlgrs113487931
GMAF0.01377
Max Magnitude0
OMIM602322
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113487931(T;T)
Alt rs113487931(T;T)
Reference rs113487931(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Aplastic anemia Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Aplastic anemia Dyskeratosis congenita autosomal dominant
Reversed 0
HGVS NC_000003.11:g.169482791C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007747.2, RCV000032580.1, RCV000229649.1,