rs786200913
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786200913(A;G) |
Make rs786200913(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 120545519 |
Gene | CUL4B |
is a | snp |
is | mentioned by |
dbSNP | rs786200913 |
dbSNP (classic) | rs786200913 |
ClinGen | rs786200913 |
ebi | rs786200913 |
HLI | rs786200913 |
Exac | rs786200913 |
Gnomad | rs786200913 |
Varsome | rs786200913 |
LitVar | rs786200913 |
Map | rs786200913 |
PheGenI | rs786200913 |
Biobank | rs786200913 |
1000 genomes | rs786200913 |
hgdp | rs786200913 |
ensembl | rs786200913 |
geneview | rs786200913 |
scholar | rs786200913 |
rs786200913 | |
pharmgkb | rs786200913 |
gwascentral | rs786200913 |
openSNP | rs786200913 |
23andMe | rs786200913 |
SNPshot | rs786200913 |
SNPdbe | rs786200913 |
MSV3d | rs786200913 |
GWAS Ctlg | rs786200913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200913(G;G) |
Alt | rs786200913(G;G) |
Reference | Rs786200913(A;A) |
Significance | Pathogenic |
Disease | Syndromic X-linked mental retardation |
Variation | info |
Gene | CUL4B |
CLNDBN | Syndromic X-linked mental retardation, Cabezas type |
Reversed | 1 |
HGVS | NC_000023.10:g.119679374T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012093.13, |