rs587780372
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587780372(C;T) |
Make rs587780372(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 53210547 |
Gene | KDM5C |
is a | snp |
is | mentioned by |
dbSNP | rs587780372 |
dbSNP (classic) | rs587780372 |
ClinGen | rs587780372 |
ebi | rs587780372 |
HLI | rs587780372 |
Exac | rs587780372 |
Gnomad | rs587780372 |
Varsome | rs587780372 |
LitVar | rs587780372 |
Map | rs587780372 |
PheGenI | rs587780372 |
Biobank | rs587780372 |
1000 genomes | rs587780372 |
hgdp | rs587780372 |
ensembl | rs587780372 |
geneview | rs587780372 |
scholar | rs587780372 |
rs587780372 | |
pharmgkb | rs587780372 |
gwascentral | rs587780372 |
openSNP | rs587780372 |
23andMe | rs587780372 |
SNPshot | rs587780372 |
SNPdbe | rs587780372 |
MSV3d | rs587780372 |
GWAS Ctlg | rs587780372 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780372(T;T) |
Alt | rs587780372(T;T) |
Reference | Rs587780372(C;C) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KDM5C |
CLNDBN | Mental retardation, syndromic, Claes-Jensen type, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.53239729G>A |
CLNSRC | |
CLNACC | RCV000117381.2, |