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rs199422262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422262(A;G)
Make rs199422262(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765013
GeneTERC
is asnp
is mentioned by
dbSNPrs199422262
ebirs199422262
HLIrs199422262
Exacrs199422262
Varsomers199422262
Maprs199422262
PheGenIrs199422262
hapmaprs199422262
1000 genomesrs199422262
hgdprs199422262
ensemblrs199422262
gopubmedrs199422262
geneviewrs199422262
scholarrs199422262
googlers199422262
pharmgkbrs199422262
gwascentralrs199422262
openSNPrs199422262
23andMers199422262
23andMe allrs199422262
SNP Nexus

SNPshotrs199422262
SNPdbers199422262
MSV3drs199422262
GWAS Ctlgrs199422262
Max Magnitude0
ClinVar
Risk rs199422262(G;G)
Alt rs199422262(G;G)
Reference rs199422262(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482801T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032577.1,