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rs121918545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918545(A;A)
Make rs121918545(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240636
GeneTINF2
is asnp
is mentioned by
dbSNPrs121918545
ClinGenrs121918545
ebirs121918545
HLIrs121918545
Exacrs121918545
Varsomers121918545
Maprs121918545
PheGenIrs121918545
hapmaprs121918545
1000 genomesrs121918545
hgdprs121918545
ensemblrs121918545
gopubmedrs121918545
geneviewrs121918545
scholarrs121918545
googlers121918545
pharmgkbrs121918545
gwascentralrs121918545
openSNPrs121918545
23andMers121918545
23andMe allrs121918545
SNP Nexus

SNPshotrs121918545
SNPdbers121918545
MSV3drs121918545
GWAS Ctlgrs121918545
Max Magnitude0
OMIM604319
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918545(A;A) rs121918545(T;T)
Alt rs121918545(A;A) rs121918545(T;T)
Reference Rs121918545(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita autosomal dominant not provided
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita, autosomal dominant, 3 Dyskeratosis congenita autosomal dominant not provided
Reversed 1
HGVS NC_000014.8:g.24709842G>A; NC_000014.8:g.24709842G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005981.3, RCV000032169.1, RCV000434257.1, RCV000005980.3, RCV000032168.1,