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rs281865427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs281865427(AA;AA)
Make rs281865427(AA;TC)
ReferenceGRCh38 38.1/141
Chromosome4
Position67754305
GeneGNRHR
is asnp
is mentioned by
dbSNPrs281865427
ebirs281865427
HLIrs281865427
Exacrs281865427
Varsomers281865427
Maprs281865427
PheGenIrs281865427
hapmaprs281865427
1000 genomesrs281865427
hgdprs281865427
ensemblrs281865427
gopubmedrs281865427
geneviewrs281865427
scholarrs281865427
googlers281865427
pharmgkbrs281865427
gwascentralrs281865427
openSNPrs281865427
23andMers281865427
23andMe allrs281865427
SNP Nexus

SNPshotrs281865427
SNPdbers281865427
MSV3drs281865427
GWAS Ctlgrs281865427
Max Magnitude0
ClinVar
Risk rs281865427(AA;AA)
Alt rs281865427(AA;AA)
Reference rs281865427(TC;TC)
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.68620023_68620024delGAinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030919.29,