rs587784386
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587784386(C;T) |
Make rs587784386(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 74421914 |
Gene | LOC105373252, SLC16A2 |
is a | snp |
is | mentioned by |
dbSNP | rs587784386 |
dbSNP (classic) | rs587784386 |
ClinGen | rs587784386 |
ebi | rs587784386 |
HLI | rs587784386 |
Exac | rs587784386 |
Gnomad | rs587784386 |
Varsome | rs587784386 |
LitVar | rs587784386 |
Map | rs587784386 |
PheGenI | rs587784386 |
Biobank | rs587784386 |
1000 genomes | rs587784386 |
hgdp | rs587784386 |
ensembl | rs587784386 |
geneview | rs587784386 |
scholar | rs587784386 |
rs587784386 | |
pharmgkb | rs587784386 |
gwascentral | rs587784386 |
openSNP | rs587784386 |
23andMe | rs587784386 |
SNPshot | rs587784386 |
SNPdbe | rs587784386 |
MSV3d | rs587784386 |
GWAS Ctlg | rs587784386 |
Max Magnitude | 0 |
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, |