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rs142777869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142777869(G;T)
Make rs142777869(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240746
GeneTINF2
is asnp
is mentioned by
dbSNPrs142777869
ebirs142777869
HLIrs142777869
Exacrs142777869
Varsomers142777869
Maprs142777869
PheGenIrs142777869
hapmaprs142777869
1000 genomesrs142777869
hgdprs142777869
ensemblrs142777869
gopubmedrs142777869
geneviewrs142777869
scholarrs142777869
googlers142777869
pharmgkbrs142777869
gwascentralrs142777869
openSNPrs142777869
23andMers142777869
23andMe allrs142777869
SNP Nexus

SNPshotrs142777869
SNPdbers142777869
MSV3drs142777869
GWAS Ctlgrs142777869
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs142777869(T;T)
Alt rs142777869(T;T)
Reference rs142777869(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 0
HGVS NC_000014.8:g.24709952G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032164.1,