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rs199422314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422314(A;G)
Make rs199422314(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240630
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422314
ebirs199422314
HLIrs199422314
Exacrs199422314
Varsomers199422314
Maprs199422314
PheGenIrs199422314
hapmaprs199422314
1000 genomesrs199422314
hgdprs199422314
ensemblrs199422314
gopubmedrs199422314
geneviewrs199422314
scholarrs199422314
googlers199422314
pharmgkbrs199422314
gwascentralrs199422314
openSNPrs199422314
23andMers199422314
23andMe allrs199422314
SNP Nexus

SNPshotrs199422314
SNPdbers199422314
MSV3drs199422314
GWAS Ctlgrs199422314
Max Magnitude0
ClinVar
Risk rs199422314(G;G)
Alt rs199422314(G;G)
Reference rs199422314(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709836T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032174.1,