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rs74452732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74452732(C;T)
Make rs74452732(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position67753825
GeneGNRHR
is asnp
is mentioned by
dbSNPrs74452732
dbSNP (classic)rs74452732
ClinGenrs74452732
ebirs74452732
HLIrs74452732
Exacrs74452732
Gnomadrs74452732
Varsomers74452732
LitVarrs74452732
Maprs74452732
PheGenIrs74452732
Biobankrs74452732
1000 genomesrs74452732
hgdprs74452732
ensemblrs74452732
geneviewrs74452732
scholarrs74452732
googlers74452732
pharmgkbrs74452732
gwascentralrs74452732
openSNPrs74452732
23andMers74452732
SNPshotrs74452732
SNPdbers74452732
MSV3drs74452732
GWAS Ctlgrs74452732
Max Magnitude0
OMIM138850
Desc
Variant0012
Relatedalso
ClinVar
Risk rs74452732(A;A) rs74452732(T;T)
Alt rs74452732(A;A) rs74452732(T;T)
Reference Rs74452732(C;C)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 7 with or without anosmia
Variation info
Gene GNRHR
CLNDBN Hypogonadotropic hypogonadism 7 with or without anosmia
Reversed 0
HGVS NC_000004.11:g.68619543C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030918.28,