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rs137852517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852517(C;T)
Make rs137852517(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position8568252
GeneKAL1
is asnp
is mentioned by
dbSNPrs137852517
ebirs137852517
HLIrs137852517
Exacrs137852517
Varsomers137852517
Maprs137852517
PheGenIrs137852517
hapmaprs137852517
1000 genomesrs137852517
hgdprs137852517
ensemblrs137852517
gopubmedrs137852517
geneviewrs137852517
scholarrs137852517
googlers137852517
pharmgkbrs137852517
gwascentralrs137852517
openSNPrs137852517
23andMers137852517
23andMe allrs137852517
SNP Nexus

SNPshotrs137852517
SNPdbers137852517
MSV3drs137852517
GWAS Ctlgrs137852517
GMAF0.0006046
Max Magnitude0
OMIM308700
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852517(T;T)
Alt rs137852517(T;T)
Reference rs137852517(C;C)
Significance Pathogenic
Disease Kallmann syndrome 1
Variation info
Gene KAL1 ANOS1
CLNDBN Kallmann syndrome 1
Reversed 1
HGVS NC_000023.10:g.8536293G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010696.3,