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rs143946794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143946794(C;C)
Make rs143946794(C;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position89350860
GeneDUSP6
is asnp
is mentioned by
dbSNPrs143946794
dbSNP (classic)rs143946794
ClinGenrs143946794
ebirs143946794
HLIrs143946794
Exacrs143946794
Gnomadrs143946794
Varsomers143946794
LitVarrs143946794
Maprs143946794
PheGenIrs143946794
Biobankrs143946794
1000 genomesrs143946794
hgdprs143946794
ensemblrs143946794
geneviewrs143946794
scholarrs143946794
googlers143946794
pharmgkbrs143946794
gwascentralrs143946794
openSNPrs143946794
23andMers143946794
SNPshotrs143946794
SNPdbers143946794
MSV3drs143946794
GWAS Ctlgrs143946794
Max Magnitude0
ClinVar
Risk rs143946794(C;C)
Alt rs143946794(C;C)
Reference Rs143946794(T;T)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 19 with or without anosmia
Variation info
Gene DUSP6
CLNDBN Hypogonadotropic hypogonadism 19 with or without anosmia
Reversed 0
HGVS NC_000012.11:g.89744637T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000043594.2,