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rs1060499576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499576(A;A)
Make rs1060499576(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position24242252
GeneTINF2
is asnp
is mentioned by
dbSNPrs1060499576
dbSNP (old)rs1060499576
ClinGenrs1060499576
ebirs1060499576
HLIrs1060499576
Exacrs1060499576
Gnomadrs1060499576
Varsomers1060499576
Maprs1060499576
PheGenIrs1060499576
Biobankrs1060499576
1000 genomesrs1060499576
hgdprs1060499576
ensemblrs1060499576
gopubmedrs1060499576
geneviewrs1060499576
scholarrs1060499576
googlers1060499576
pharmgkbrs1060499576
gwascentralrs1060499576
openSNPrs1060499576
23andMers1060499576
23andMe allrs1060499576
SNPshotrs1060499576
SNPdbers1060499576
MSV3drs1060499576
GWAS Ctlgrs1060499576
Max Magnitude0
ClinVar
Risk rs1060499576(A;A)
Alt rs1060499576(A;A)
Reference Rs1060499576(C;C)
Significance Probable-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.24711458G>T
CLNSRC
CLNACC RCV000477835.1,