rs1057518704
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057518704(A;A) |
Make rs1057518704(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 53595328 |
Gene | HUWE1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518704 |
dbSNP (classic) | rs1057518704 |
ClinGen | rs1057518704 |
ebi | rs1057518704 |
HLI | rs1057518704 |
Exac | rs1057518704 |
Gnomad | rs1057518704 |
Varsome | rs1057518704 |
LitVar | rs1057518704 |
Map | rs1057518704 |
PheGenI | rs1057518704 |
Biobank | rs1057518704 |
1000 genomes | rs1057518704 |
hgdp | rs1057518704 |
ensembl | rs1057518704 |
geneview | rs1057518704 |
scholar | rs1057518704 |
rs1057518704 | |
pharmgkb | rs1057518704 |
gwascentral | rs1057518704 |
openSNP | rs1057518704 |
23andMe | rs1057518704 |
SNPshot | rs1057518704 |
SNPdbe | rs1057518704 |
MSV3d | rs1057518704 |
GWAS Ctlg | rs1057518704 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518704(A;A) |
Alt | rs1057518704(A;A) |
Reference | Rs1057518704(G;G) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | HUWE1 |
CLNDBN | Mental retardation, X-linked, syndromic, turner type |
Reversed | 1 |
HGVS | NC_000023.10:g.53622288C>T |
CLNSRC | |
CLNACC | RCV000415182.1, |