rs145606134
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs145606134(A;G) |
Make rs145606134(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 102937494 |
Gene | RAB40AL |
is a | snp |
is | mentioned by |
dbSNP | rs145606134 |
dbSNP (classic) | rs145606134 |
ClinGen | rs145606134 |
ebi | rs145606134 |
HLI | rs145606134 |
Exac | rs145606134 |
Gnomad | rs145606134 |
Varsome | rs145606134 |
LitVar | rs145606134 |
Map | rs145606134 |
PheGenI | rs145606134 |
Biobank | rs145606134 |
1000 genomes | rs145606134 |
hgdp | rs145606134 |
ensembl | rs145606134 |
geneview | rs145606134 |
scholar | rs145606134 |
rs145606134 | |
pharmgkb | rs145606134 |
gwascentral | rs145606134 |
openSNP | rs145606134 |
23andMe | rs145606134 |
SNPshot | rs145606134 |
SNPdbe | rs145606134 |
MSV3d | rs145606134 |
GWAS Ctlg | rs145606134 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145606134(G;G) |
Alt | rs145606134(G;G) |
Reference | Rs145606134(A;A) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | RAB40AL |
CLNDBN | Mental retardation, X-linked, syndromic, martin-probst type |
Reversed | 0 |
HGVS | NC_000023.10:g.102192422A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000030692.3, |