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rs587784386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784386(C;T)
Make rs587784386(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position74421914
GeneLOC105373252, SLC16A2
is asnp
is mentioned by
dbSNPrs587784386
dbSNP (classic)rs587784386
ClinGenrs587784386
ebirs587784386
HLIrs587784386
Exacrs587784386
Gnomadrs587784386
Varsomers587784386
LitVarrs587784386
Maprs587784386
PheGenIrs587784386
Biobankrs587784386
1000 genomesrs587784386
hgdprs587784386
ensemblrs587784386
geneviewrs587784386
scholarrs587784386
googlers587784386
pharmgkbrs587784386
gwascentralrs587784386
openSNPrs587784386
23andMers587784386
SNPshotrs587784386
SNPdbers587784386
MSV3drs587784386
GWAS Ctlgrs587784386
Max Magnitude0
ClinVar
Risk rs587784386(T;T)
Alt rs587784386(T;T)
Reference Rs587784386(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.73641749C>T
CLNSRC
CLNACC RCV000147498.1,