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rs137852514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852514(A;A)
Make rs137852514(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position8585349
GeneKAL1
is asnp
is mentioned by
dbSNPrs137852514
ebirs137852514
HLIrs137852514
Exacrs137852514
Varsomers137852514
Maprs137852514
PheGenIrs137852514
hapmaprs137852514
1000 genomesrs137852514
hgdprs137852514
ensemblrs137852514
gopubmedrs137852514
geneviewrs137852514
scholarrs137852514
googlers137852514
pharmgkbrs137852514
gwascentralrs137852514
openSNPrs137852514
23andMers137852514
23andMe allrs137852514
SNP Nexus

SNPshotrs137852514
SNPdbers137852514
MSV3drs137852514
GWAS Ctlgrs137852514
Max Magnitude0
OMIM308700
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852514(A;A)
Alt rs137852514(A;A)
Reference rs137852514(G;G)
Significance Pathogenic
Disease Kallmann syndrome 1
Variation info
Gene KAL1 ANOS1
CLNDBN Kallmann syndrome 1
Reversed 1
HGVS NC_000023.10:g.8553390C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010688.6,