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rs74315418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315418(A;A)
Make rs74315418(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position5314116
GeneLOC728283, PROKR2
is asnp
is mentioned by
dbSNPrs74315418
dbSNP (classic)rs74315418
ClinGenrs74315418
ebirs74315418
HLIrs74315418
Exacrs74315418
Gnomadrs74315418
Varsomers74315418
LitVarrs74315418
Maprs74315418
PheGenIrs74315418
Biobankrs74315418
1000 genomesrs74315418
hgdprs74315418
ensemblrs74315418
geneviewrs74315418
scholarrs74315418
googlers74315418
pharmgkbrs74315418
gwascentralrs74315418
openSNPrs74315418
23andMers74315418
SNPshotrs74315418
SNPdbers74315418
MSV3drs74315418
GWAS Ctlgrs74315418
GMAF0.002755
Max Magnitude0
OMIM607123
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315418(A;A) rs74315418(T;T)
Alt rs74315418(A;A) rs74315418(T;T)
Reference Rs74315418(G;G)
Significance Pathogenic
Disease Hypogonadism with anosmia Kallmann syndrome 3 not specified
Variation info
Gene PROKR2 LOC728283
CLNDBN Hypogonadism with anosmia Kallmann syndrome 3 not specified
Reversed 1
HGVS NC_000020.10:g.5294762C>A; NC_000020.10:g.5294762C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000305149.1, RCV000022408.5, RCV000323645.1,