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rs137852513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852513(C;T)
Make rs137852513(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position8585354
GeneKAL1
is asnp
is mentioned by
dbSNPrs137852513
ebirs137852513
HLIrs137852513
Exacrs137852513
Varsomers137852513
Maprs137852513
PheGenIrs137852513
hapmaprs137852513
1000 genomesrs137852513
hgdprs137852513
ensemblrs137852513
gopubmedrs137852513
geneviewrs137852513
scholarrs137852513
googlers137852513
pharmgkbrs137852513
gwascentralrs137852513
openSNPrs137852513
23andMers137852513
23andMe allrs137852513
SNP Nexus

SNPshotrs137852513
SNPdbers137852513
MSV3drs137852513
GWAS Ctlgrs137852513
Max Magnitude0
OMIM308700
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852513(T;T)
Alt rs137852513(T;T)
Reference rs137852513(C;C)
Significance Pathogenic
Disease Kallmann syndrome 1
Variation info
Gene KAL1 ANOS1
CLNDBN Kallmann syndrome 1
Reversed 1
HGVS NC_000023.10:g.8553395G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010687.5,