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rs137852516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852516(C;T)
Make rs137852516(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position8585339
GeneKAL1
is asnp
is mentioned by
dbSNPrs137852516
ebirs137852516
HLIrs137852516
Exacrs137852516
Varsomers137852516
Maprs137852516
PheGenIrs137852516
hapmaprs137852516
1000 genomesrs137852516
hgdprs137852516
ensemblrs137852516
gopubmedrs137852516
geneviewrs137852516
scholarrs137852516
googlers137852516
pharmgkbrs137852516
gwascentralrs137852516
openSNPrs137852516
23andMers137852516
23andMe allrs137852516
SNP Nexus

SNPshotrs137852516
SNPdbers137852516
MSV3drs137852516
GWAS Ctlgrs137852516
Max Magnitude0
OMIM308700
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852516(T;T)
Alt rs137852516(T;T)
Reference rs137852516(C;C)
Significance Pathogenic
Disease Kallmann syndrome 1
Variation info
Gene KAL1 ANOS1
CLNDBN Kallmann syndrome 1
Reversed 1
HGVS NC_000023.10:g.8553380G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010694.3,