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rs74315417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315417(A;G)
Make rs74315417(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position5302566
GenePROKR2
is asnp
is mentioned by
dbSNPrs74315417
dbSNP (classic)rs74315417
ClinGenrs74315417
ebirs74315417
HLIrs74315417
Exacrs74315417
Gnomadrs74315417
Varsomers74315417
LitVarrs74315417
Maprs74315417
PheGenIrs74315417
Biobankrs74315417
1000 genomesrs74315417
hgdprs74315417
ensemblrs74315417
geneviewrs74315417
scholarrs74315417
googlers74315417
pharmgkbrs74315417
gwascentralrs74315417
openSNPrs74315417
23andMers74315417
SNPshotrs74315417
SNPdbers74315417
MSV3drs74315417
GWAS Ctlgrs74315417
Max Magnitude0
OMIM607123
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315417(C;C) rs74315417(G;G)
Alt rs74315417(C;C) rs74315417(G;G)
Reference Rs74315417(A;A)
Significance Pathogenic
Disease Kallmann syndrome 3
Variation info
Gene PROKR2
CLNDBN Kallmann syndrome 3
Reversed 1
HGVS NC_000020.10:g.5283212T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022407.4,