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rs192861143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 0.5 likely to be benign
Make rs192861143(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position171448667
GeneDCAF17
is asnp
is mentioned by
dbSNPrs192861143
dbSNP (classic)rs192861143
ClinGenrs192861143
ebirs192861143
HLIrs192861143
Exacrs192861143
Gnomadrs192861143
Varsomers192861143
LitVarrs192861143
Maprs192861143
PheGenIrs192861143
Biobankrs192861143
1000 genomesrs192861143
hgdprs192861143
ensemblrs192861143
geneviewrs192861143
scholarrs192861143
googlers192861143
pharmgkbrs192861143
gwascentralrs192861143
openSNPrs192861143
23andMers192861143
SNPshotrs192861143
SNPdbers192861143
MSV3drs192861143
GWAS Ctlgrs192861143
Max Magnitude0.5
ClinVar
Risk rs192861143(T;T)
Alt rs192861143(T;T)
Reference Rs192861143(C;C)
Significance Probable-Pathogenic
Disease not provided Hypogonadism
Variation info
Gene DCAF17
CLNDBN not provided Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities
Reversed 0
HGVS NC_000002.11:g.172305177C>T
CLNSRC
CLNACC RCV000171450.1, RCV000341904.1,