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rs199422316

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422316(C;C)
Make rs199422316(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240620
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422316
ebirs199422316
HLIrs199422316
Exacrs199422316
Varsomers199422316
Maprs199422316
PheGenIrs199422316
hapmaprs199422316
1000 genomesrs199422316
hgdprs199422316
ensemblrs199422316
gopubmedrs199422316
geneviewrs199422316
scholarrs199422316
googlers199422316
pharmgkbrs199422316
gwascentralrs199422316
openSNPrs199422316
23andMers199422316
23andMe allrs199422316
SNP Nexus

SNPshotrs199422316
SNPdbers199422316
MSV3drs199422316
GWAS Ctlgrs199422316
Max Magnitude0
ClinVar
Risk rs199422316(C;C)
Alt rs199422316(C;C)
Reference rs199422316(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000014.8:g.24709826A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032175.1,