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rs387907153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907153(C;T)
Make rs387907153(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240675
GeneTINF2
is asnp
is mentioned by
dbSNPrs387907153
ebirs387907153
HLIrs387907153
Exacrs387907153
Varsomers387907153
Maprs387907153
PheGenIrs387907153
hapmaprs387907153
1000 genomesrs387907153
hgdprs387907153
ensemblrs387907153
gopubmedrs387907153
geneviewrs387907153
scholarrs387907153
googlers387907153
pharmgkbrs387907153
gwascentralrs387907153
openSNPrs387907153
23andMers387907153
23andMe allrs387907153
SNP Nexus

SNPshotrs387907153
SNPdbers387907153
MSV3drs387907153
GWAS Ctlgrs387907153
Max Magnitude0
ClinVar
Risk rs387907153(T;T)
Alt rs387907153(T;T)
Reference rs387907153(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita, autosomal dominant, 3
Reversed 1
HGVS NC_000014.8:g.24709881G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024248.3,