rs782246658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs782246658(G;T) |
Make rs782246658(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 53195918 |
Gene | KDM5C, MIR6895 |
is a | snp |
is | mentioned by |
dbSNP | rs782246658 |
dbSNP (classic) | rs782246658 |
ClinGen | rs782246658 |
ebi | rs782246658 |
HLI | rs782246658 |
Exac | rs782246658 |
Gnomad | rs782246658 |
Varsome | rs782246658 |
LitVar | rs782246658 |
Map | rs782246658 |
PheGenI | rs782246658 |
Biobank | rs782246658 |
1000 genomes | rs782246658 |
hgdp | rs782246658 |
ensembl | rs782246658 |
geneview | rs782246658 |
scholar | rs782246658 |
rs782246658 | |
pharmgkb | rs782246658 |
gwascentral | rs782246658 |
openSNP | rs782246658 |
23andMe | rs782246658 |
SNPshot | rs782246658 |
SNPdbe | rs782246658 |
MSV3d | rs782246658 |
GWAS Ctlg | rs782246658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782246658(A;A) rs782246658(T;T) |
Alt | rs782246658(A;A) rs782246658(T;T) |
Reference | Rs782246658(G;G) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | MIR6895 KDM5C |
CLNDBN | Mental retardation, syndromic, Claes-Jensen type, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.53225100G>A |
CLNSRC | |
CLNACC | RCV000193813.1, |