rs267606995
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606995(A;A) |
Make rs267606995(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 155264268 |
Gene | RAB39B |
is a | snp |
is | mentioned by |
dbSNP | rs267606995 |
dbSNP (classic) | rs267606995 |
ClinGen | rs267606995 |
ebi | rs267606995 |
HLI | rs267606995 |
Exac | rs267606995 |
Gnomad | rs267606995 |
Varsome | rs267606995 |
LitVar | rs267606995 |
Map | rs267606995 |
PheGenI | rs267606995 |
Biobank | rs267606995 |
1000 genomes | rs267606995 |
hgdp | rs267606995 |
ensembl | rs267606995 |
geneview | rs267606995 |
scholar | rs267606995 |
rs267606995 | |
pharmgkb | rs267606995 |
gwascentral | rs267606995 |
openSNP | rs267606995 |
23andMe | rs267606995 |
SNPshot | rs267606995 |
SNPdbe | rs267606995 |
MSV3d | rs267606995 |
GWAS Ctlg | rs267606995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606995(A;A) |
Alt | rs267606995(A;A) |
Reference | Rs267606995(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | RAB39B |
CLNDBN | Mental retardation, X-linked 72 |
Reversed | 1 |
HGVS | NC_000023.10:g.154493553G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011289.5, |