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rs367543059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs367543059(C;C)
Make rs367543059(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74529295
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs367543059
ebirs367543059
HLIrs367543059
Exacrs367543059
Varsomers367543059
Maprs367543059
PheGenIrs367543059
hapmaprs367543059
1000 genomesrs367543059
hgdprs367543059
ensemblrs367543059
gopubmedrs367543059
geneviewrs367543059
scholarrs367543059
googlers367543059
pharmgkbrs367543059
gwascentralrs367543059
openSNPrs367543059
23andMers367543059
23andMe allrs367543059
SNP Nexus

SNPshotrs367543059
SNPdbers367543059
MSV3drs367543059
GWAS Ctlgrs367543059
Max Magnitude0
ClinVar
Risk rs367543059(C;C)
Alt rs367543059(C;C)
Reference rs367543059(T;T)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73749130T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034937.1,