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rs104893842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893842(A;A)
Make rs104893842(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position67753920
GeneGNRHR
is asnp
is mentioned by
dbSNPrs104893842
dbSNP (classic)rs104893842
ClinGenrs104893842
ebirs104893842
HLIrs104893842
Exacrs104893842
Gnomadrs104893842
Varsomers104893842
LitVarrs104893842
Maprs104893842
PheGenIrs104893842
Biobankrs104893842
1000 genomesrs104893842
hgdprs104893842
ensemblrs104893842
geneviewrs104893842
scholarrs104893842
googlers104893842
pharmgkbrs104893842
gwascentralrs104893842
openSNPrs104893842
23andMers104893842
SNPshotrs104893842
SNPdbers104893842
MSV3drs104893842
GWAS Ctlgrs104893842
Max Magnitude0
OMIM138850
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893842(A;A)
Alt rs104893842(A;A)
Reference Rs104893842(G;G)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 7 with or without anosmia Isolated GnRH Deficiency
Variation info
Gene GNRHR
CLNDBN Hypogonadotropic hypogonadism 7 with or without anosmia Isolated GnRH Deficiency
Reversed 1
HGVS NC_000004.11:g.68619638C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030914.29, RCV000203470.1, RCV000265551.1,