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rs104893847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893847(C;T)
Make rs104893847(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position67740508
GeneGNRHR
is asnp
is mentioned by
dbSNPrs104893847
dbSNP (classic)rs104893847
ClinGenrs104893847
ebirs104893847
HLIrs104893847
Exacrs104893847
Gnomadrs104893847
Varsomers104893847
LitVarrs104893847
Maprs104893847
PheGenIrs104893847
Biobankrs104893847
1000 genomesrs104893847
hgdprs104893847
ensemblrs104893847
geneviewrs104893847
scholarrs104893847
googlers104893847
pharmgkbrs104893847
gwascentralrs104893847
openSNPrs104893847
23andMers104893847
SNPshotrs104893847
SNPdbers104893847
MSV3drs104893847
GWAS Ctlgrs104893847
Max Magnitude0
OMIM138850
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893847(T;T)
Alt rs104893847(T;T)
Reference Rs104893847(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 1
HGVS NC_000004.11:g.68606226G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030920.29,