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rs554675432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs554675432(-;-)
Make rs554675432(-;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position71781526
GenePROK2
is asnp
is mentioned by
dbSNPrs554675432
dbSNP (classic)rs554675432
ClinGenrs554675432
ebirs554675432
HLIrs554675432
Exacrs554675432
Gnomadrs554675432
Varsomers554675432
LitVarrs554675432
Maprs554675432
PheGenIrs554675432
Biobankrs554675432
1000 genomesrs554675432
hgdprs554675432
ensemblrs554675432
geneviewrs554675432
scholarrs554675432
googlers554675432
pharmgkbrs554675432
gwascentralrs554675432
openSNPrs554675432
23andMers554675432
SNPshotrs554675432
SNPdbers554675432
MSV3drs554675432
GWAS Ctlgrs554675432
Max Magnitude0
ClinVar
Risk rs554675432(-;-)
Alt rs554675432(-;-)
Reference Rs554675432(T;T)
Significance Pathogenic
Disease Kallmann syndrome 4
Variation info
Gene PROK2
CLNDBN Kallmann syndrome 4
Reversed 0
HGVS NC_000003.11:g.71830677delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003786.5,