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rs138672528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138672528(C;T)
Make rs138672528(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position5314027
GeneLOC728283, PROKR2
is asnp
is mentioned by
dbSNPrs138672528
dbSNP (classic)rs138672528
ClinGenrs138672528
ebirs138672528
HLIrs138672528
Exacrs138672528
Gnomadrs138672528
Varsomers138672528
LitVarrs138672528
Maprs138672528
PheGenIrs138672528
Biobankrs138672528
1000 genomesrs138672528
hgdprs138672528
ensemblrs138672528
geneviewrs138672528
scholarrs138672528
googlers138672528
pharmgkbrs138672528
gwascentralrs138672528
openSNPrs138672528
23andMers138672528
SNPshotrs138672528
SNPdbers138672528
MSV3drs138672528
GWAS Ctlgrs138672528
Max Magnitude0
ClinVar
Risk rs138672528(T;T)
Alt rs138672528(T;T)
Reference Rs138672528(C;C)
Significance Pathogenic
Disease Kallmann syndrome 3
Variation info
Gene PROKR2 LOC728283
CLNDBN Kallmann syndrome 3
Reversed 0
HGVS NC_000020.10:g.5294673C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144713.3,