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rs199422313

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422313(A;A)
Make rs199422313(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240632
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422313
ebirs199422313
HLIrs199422313
Exacrs199422313
Varsomers199422313
Maprs199422313
PheGenIrs199422313
hapmaprs199422313
1000 genomesrs199422313
hgdprs199422313
ensemblrs199422313
gopubmedrs199422313
geneviewrs199422313
scholarrs199422313
googlers199422313
pharmgkbrs199422313
gwascentralrs199422313
openSNPrs199422313
23andMers199422313
23andMe allrs199422313
SNP Nexus

SNPshotrs199422313
SNPdbers199422313
MSV3drs199422313
GWAS Ctlgrs199422313
Max Magnitude0
ClinVar
Risk rs199422313(A;A)
Alt rs199422313(A;A)
Reference rs199422313(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709838G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032172.1,