rs281860639
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281860639(A;A) |
Make rs281860639(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 53199048 |
Gene | KDM5C, MIR6894 |
is a | snp |
is | mentioned by |
dbSNP | rs281860639 |
dbSNP (classic) | rs281860639 |
ClinGen | rs281860639 |
ebi | rs281860639 |
HLI | rs281860639 |
Exac | rs281860639 |
Gnomad | rs281860639 |
Varsome | rs281860639 |
LitVar | rs281860639 |
Map | rs281860639 |
PheGenI | rs281860639 |
Biobank | rs281860639 |
1000 genomes | rs281860639 |
hgdp | rs281860639 |
ensembl | rs281860639 |
geneview | rs281860639 |
scholar | rs281860639 |
rs281860639 | |
pharmgkb | rs281860639 |
gwascentral | rs281860639 |
openSNP | rs281860639 |
23andMe | rs281860639 |
SNPshot | rs281860639 |
SNPdbe | rs281860639 |
MSV3d | rs281860639 |
GWAS Ctlg | rs281860639 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281860639(A;A) |
Alt | rs281860639(A;A) |
Reference | Rs281860639(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KDM5C MIR6894 |
CLNDBN | Mental retardation, syndromic, Claes-Jensen type, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.53228230G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022890.4, |