rs1057515581
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057515581(-;TA) |
Make rs1057515581(TA;TA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 53217906 |
Gene | KDM5C |
is a | snp |
is | mentioned by |
dbSNP | rs1057515581 |
dbSNP (classic) | rs1057515581 |
ClinGen | rs1057515581 |
ebi | rs1057515581 |
HLI | rs1057515581 |
Exac | rs1057515581 |
Gnomad | rs1057515581 |
Varsome | rs1057515581 |
LitVar | rs1057515581 |
Map | rs1057515581 |
PheGenI | rs1057515581 |
Biobank | rs1057515581 |
1000 genomes | rs1057515581 |
hgdp | rs1057515581 |
ensembl | rs1057515581 |
geneview | rs1057515581 |
scholar | rs1057515581 |
rs1057515581 | |
pharmgkb | rs1057515581 |
gwascentral | rs1057515581 |
openSNP | rs1057515581 |
23andMe | rs1057515581 |
SNPshot | rs1057515581 |
SNPdbe | rs1057515581 |
MSV3d | rs1057515581 |
GWAS Ctlg | rs1057515581 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057515581(TA;TA) |
Alt | rs1057515581(TA;TA) |
Reference | Rs1057515581(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KDM5C |
CLNDBN | Mental retardation, syndromic, Claes-Jensen type, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.53247088_53247089insTA |
CLNSRC | |
CLNACC | RCV000379085.1, |