rs797044862
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044862(A;A) |
Make rs797044862(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 120538659 |
Gene | CUL4B |
is a | snp |
is | mentioned by |
dbSNP | rs797044862 |
dbSNP (classic) | rs797044862 |
ClinGen | rs797044862 |
ebi | rs797044862 |
HLI | rs797044862 |
Exac | rs797044862 |
Gnomad | rs797044862 |
Varsome | rs797044862 |
LitVar | rs797044862 |
Map | rs797044862 |
PheGenI | rs797044862 |
Biobank | rs797044862 |
1000 genomes | rs797044862 |
hgdp | rs797044862 |
ensembl | rs797044862 |
geneview | rs797044862 |
scholar | rs797044862 |
rs797044862 | |
pharmgkb | rs797044862 |
gwascentral | rs797044862 |
openSNP | rs797044862 |
23andMe | rs797044862 |
SNPshot | rs797044862 |
SNPdbe | rs797044862 |
MSV3d | rs797044862 |
GWAS Ctlg | rs797044862 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044862(A;A) rs797044862(T;T) |
Alt | rs797044862(A;A) rs797044862(T;T) |
Reference | Rs797044862(G;G) |
Significance | Pathogenic |
Disease | Syndromic X-linked mental retardation Inborn genetic diseases |
Variation | info |
Gene | CUL4B |
CLNDBN | Syndromic X-linked mental retardation, Cabezas type Inborn genetic diseases |
Reversed | 1 |
HGVS | NC_000023.10:g.119672514C>A; NC_000023.10:g.119672514C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190824.3, RCV000190666.1, |