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rs141090506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141090506(C;C)
Make rs141090506(C;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position5314117
GeneLOC728283, PROKR2
is asnp
is mentioned by
dbSNPrs141090506
dbSNP (classic)rs141090506
ClinGenrs141090506
ebirs141090506
HLIrs141090506
Exacrs141090506
Gnomadrs141090506
Varsomers141090506
LitVarrs141090506
Maprs141090506
PheGenIrs141090506
Biobankrs141090506
1000 genomesrs141090506
hgdprs141090506
ensemblrs141090506
geneviewrs141090506
scholarrs141090506
googlers141090506
pharmgkbrs141090506
gwascentralrs141090506
openSNPrs141090506
23andMers141090506
SNPshotrs141090506
SNPdbers141090506
MSV3drs141090506
GWAS Ctlgrs141090506
Max Magnitude0
ClinVar
Risk rs141090506(A;A) rs141090506(C;C)
Alt rs141090506(A;A) rs141090506(C;C)
Reference Rs141090506(G;G)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 3 without anosmia not specified Hypogonadism with anosmia not provided
Variation info
Gene LOC728283 PROKR2
CLNDBN Hypogonadotropic hypogonadism 3 without anosmia not specified Hypogonadism with anosmia not provided
Reversed 0
HGVS NC_000020.10:g.5294763G>A; NC_000020.10:g.5294763G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144712.3, RCV000239076.1, RCV000345795.1, RCV000413366.1,