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rs121918543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918543(A;G)
Make rs121918543(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240642
GeneTINF2
is asnp
is mentioned by
dbSNPrs121918543
ebirs121918543
HLIrs121918543
Exacrs121918543
Varsomers121918543
Maprs121918543
PheGenIrs121918543
hapmaprs121918543
1000 genomesrs121918543
hgdprs121918543
ensemblrs121918543
gopubmedrs121918543
geneviewrs121918543
scholarrs121918543
googlers121918543
pharmgkbrs121918543
gwascentralrs121918543
openSNPrs121918543
23andMers121918543
23andMe allrs121918543
SNP Nexus

SNPshotrs121918543
SNPdbers121918543
MSV3drs121918543
GWAS Ctlgrs121918543
Max Magnitude0
OMIM604319
Desc
Variant0001
Relatedalso
OMIM127550
Desc
Variant
Relatedalso
ClinVar
Risk rs121918543(G,T;G,T)
Alt rs121918543(G,T;G,T)
Reference rs121918543(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant Dyskeratosis congenita
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita autosomal dominant Dyskeratosis congenita, autosomal dominant, 3
Reversed 1
HGVS NC_000014.8:g.24709848T>A; NC_000014.8:g.24709848T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032166.1, RCV000005977.3, RCV000032165.1,