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rs121918544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918544(A;A)
Make rs121918544(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24240635
GeneTINF2
is asnp
is mentioned by
dbSNPrs121918544
ebirs121918544
HLIrs121918544
Exacrs121918544
Varsomers121918544
Maprs121918544
PheGenIrs121918544
hapmaprs121918544
1000 genomesrs121918544
hgdprs121918544
ensemblrs121918544
gopubmedrs121918544
geneviewrs121918544
scholarrs121918544
googlers121918544
pharmgkbrs121918544
gwascentralrs121918544
openSNPrs121918544
23andMers121918544
23andMe allrs121918544
SNP Nexus

SNPshotrs121918544
SNPdbers121918544
MSV3drs121918544
GWAS Ctlgrs121918544
Max Magnitude0
OMIM604319
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918544(A;A)
Alt rs121918544(A;A)
Reference rs121918544(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita Revesz syndrome
Variation info
Gene TINF2
CLNDBN Dyskeratosis congenita, autosomal dominant, 3 Revesz syndrome
Reversed 1
HGVS NC_000014.8:g.24709841C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005978.4, RCV000005979.2,