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rs587784382

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784382(C;T)
Make rs587784382(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position74524699
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs587784382
ebirs587784382
HLIrs587784382
Exacrs587784382
Varsomers587784382
Maprs587784382
PheGenIrs587784382
hapmaprs587784382
1000 genomesrs587784382
hgdprs587784382
ensemblrs587784382
gopubmedrs587784382
geneviewrs587784382
scholarrs587784382
googlers587784382
pharmgkbrs587784382
gwascentralrs587784382
openSNPrs587784382
23andMers587784382
23andMe allrs587784382
SNP Nexus

SNPshotrs587784382
SNPdbers587784382
MSV3drs587784382
GWAS Ctlgrs587784382
Max Magnitude0
ClinVar
Risk rs587784382(T;T)
Alt rs587784382(T;T)
Reference rs587784382(C;C)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73744534C>T
CLNSRC
CLNACC RCV000147492.1,