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rs74315419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315419(A;A)
Make rs74315419(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position5302226
GenePROKR2
is asnp
is mentioned by
dbSNPrs74315419
dbSNP (classic)rs74315419
ClinGenrs74315419
ebirs74315419
HLIrs74315419
Exacrs74315419
Gnomadrs74315419
Varsomers74315419
LitVarrs74315419
Maprs74315419
PheGenIrs74315419
Biobankrs74315419
1000 genomesrs74315419
hgdprs74315419
ensemblrs74315419
geneviewrs74315419
scholarrs74315419
googlers74315419
pharmgkbrs74315419
gwascentralrs74315419
openSNPrs74315419
23andMers74315419
SNPshotrs74315419
SNPdbers74315419
MSV3drs74315419
GWAS Ctlgrs74315419
Max Magnitude0
OMIM607123
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315419(A;A)
Alt rs74315419(A;A)
Reference Rs74315419(G;G)
Significance Pathogenic
Disease Kallmann syndrome 3
Variation info
Gene PROKR2
CLNDBN Kallmann syndrome 3
Reversed 1
HGVS NC_000020.10:g.5282872C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022410.3,