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rs387907154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907154(C;T)
Make rs387907154(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240669
GeneTINF2
is asnp
is mentioned by
dbSNPrs387907154
ebirs387907154
HLIrs387907154
Exacrs387907154
Varsomers387907154
Maprs387907154
PheGenIrs387907154
hapmaprs387907154
1000 genomesrs387907154
hgdprs387907154
ensemblrs387907154
gopubmedrs387907154
geneviewrs387907154
scholarrs387907154
googlers387907154
pharmgkbrs387907154
gwascentralrs387907154
openSNPrs387907154
23andMers387907154
23andMe allrs387907154
SNP Nexus

SNPshotrs387907154
SNPdbers387907154
MSV3drs387907154
GWAS Ctlgrs387907154
Max Magnitude0
ClinVar
Risk rs387907154(T;T)
Alt rs387907154(T;T)
Reference rs387907154(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita, autosomal dominant, 3
Reversed 1
HGVS NC_000014.8:g.24709875G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024250.3,