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rs28933074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28933074(A;G)
Make rs28933074(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position67740616
GeneGNRHR
is asnp
is mentioned by
dbSNPrs28933074
dbSNP (classic)rs28933074
ClinGenrs28933074
ebirs28933074
HLIrs28933074
Exacrs28933074
Gnomadrs28933074
Varsomers28933074
LitVarrs28933074
Maprs28933074
PheGenIrs28933074
Biobankrs28933074
1000 genomesrs28933074
hgdprs28933074
ensemblrs28933074
geneviewrs28933074
scholarrs28933074
googlers28933074
pharmgkbrs28933074
gwascentralrs28933074
openSNPrs28933074
23andMers28933074
SNPshotrs28933074
SNPdbers28933074
MSV3drs28933074
GWAS Ctlgrs28933074
Max Magnitude0
OMIM138850
DescHYPOGONADOTROPIC HYPOGONADISM
Variant0003
Relatedalso


ClinVar
Risk rs28933074(G;G)
Alt rs28933074(G;G)
Reference Rs28933074(A;A)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 7 with or without anosmia
Variation info
Gene GNRHR
CLNDBN Hypogonadotropic hypogonadism 7 with or without anosmia
Reversed 1
HGVS NC_000004.11:g.68606334T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030909.28,