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rs104893840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893840(A;A)
Make rs104893840(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position67753832
GeneGNRHR
is asnp
is mentioned by
dbSNPrs104893840
dbSNP (classic)rs104893840
ClinGenrs104893840
ebirs104893840
HLIrs104893840
Exacrs104893840
Gnomadrs104893840
Varsomers104893840
LitVarrs104893840
Maprs104893840
PheGenIrs104893840
Biobankrs104893840
1000 genomesrs104893840
hgdprs104893840
ensemblrs104893840
geneviewrs104893840
scholarrs104893840
googlers104893840
pharmgkbrs104893840
gwascentralrs104893840
openSNPrs104893840
23andMers104893840
SNPshotrs104893840
SNPdbers104893840
MSV3drs104893840
GWAS Ctlgrs104893840
Max Magnitude0
OMIM138850
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893840(A;A)
Alt rs104893840(A;A)
Reference Rs104893840(T;T)
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.68619550A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030912.28,