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rs199422311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422311(C;T)
Make rs199422311(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240633
GeneTINF2
is asnp
is mentioned by
dbSNPrs199422311
ebirs199422311
HLIrs199422311
Exacrs199422311
Varsomers199422311
Maprs199422311
PheGenIrs199422311
hapmaprs199422311
1000 genomesrs199422311
hgdprs199422311
ensemblrs199422311
gopubmedrs199422311
geneviewrs199422311
scholarrs199422311
googlers199422311
pharmgkbrs199422311
gwascentralrs199422311
openSNPrs199422311
23andMers199422311
23andMe allrs199422311
SNP Nexus

SNPshotrs199422311
SNPdbers199422311
MSV3drs199422311
GWAS Ctlgrs199422311
Max Magnitude0
ClinVar
Risk rs199422311(G,T;G,T)
Alt rs199422311(G,T;G,T)
Reference rs199422311(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.24709839G>A; NC_000014.8:g.24709839G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032171.1, RCV000032170.1,