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rs104893838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893838(A;A)
Make rs104893838(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position67753950
GeneGNRHR
is asnp
is mentioned by
dbSNPrs104893838
dbSNP (classic)rs104893838
ClinGenrs104893838
ebirs104893838
HLIrs104893838
Exacrs104893838
Gnomadrs104893838
Varsomers104893838
LitVarrs104893838
Maprs104893838
PheGenIrs104893838
Biobankrs104893838
1000 genomesrs104893838
hgdprs104893838
ensemblrs104893838
geneviewrs104893838
scholarrs104893838
googlers104893838
pharmgkbrs104893838
gwascentralrs104893838
openSNPrs104893838
23andMers104893838
SNPshotrs104893838
SNPdbers104893838
MSV3drs104893838
GWAS Ctlgrs104893838
Max Magnitude0
OMIM138850
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893838(A;A) rs104893838(G;G)
Alt rs104893838(A;A) rs104893838(G;G)
Reference Rs104893838(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.68619668G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030910.25,