Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434272(C;T)
Make rs121434272(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position71781472
GenePROK2
is asnp
is mentioned by
dbSNPrs121434272
dbSNP (classic)rs121434272
ClinGenrs121434272
ebirs121434272
HLIrs121434272
Exacrs121434272
Gnomadrs121434272
Varsomers121434272
LitVarrs121434272
Maprs121434272
PheGenIrs121434272
Biobankrs121434272
1000 genomesrs121434272
hgdprs121434272
ensemblrs121434272
geneviewrs121434272
scholarrs121434272
googlers121434272
pharmgkbrs121434272
gwascentralrs121434272
openSNPrs121434272
23andMers121434272
SNPshotrs121434272
SNPdbers121434272
MSV3drs121434272
GWAS Ctlgrs121434272
Max Magnitude0
OMIM607002
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434272(G;G) rs121434272(T;T)
Alt rs121434272(G;G) rs121434272(T;T)
Reference Rs121434272(C;C)
Significance Pathogenic
Disease Kallmann syndrome 4
Variation info
Gene PROK2
CLNDBN Kallmann syndrome 4
Reversed 1
HGVS NC_000003.11:g.71830623G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003788.4,