rs797044731
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797044731(A;A) |
Make rs797044731(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 53217832 |
Gene | KDM5C |
is a | snp |
is | mentioned by |
dbSNP | rs797044731 |
dbSNP (classic) | rs797044731 |
ClinGen | rs797044731 |
ebi | rs797044731 |
HLI | rs797044731 |
Exac | rs797044731 |
Gnomad | rs797044731 |
Varsome | rs797044731 |
LitVar | rs797044731 |
Map | rs797044731 |
PheGenI | rs797044731 |
Biobank | rs797044731 |
1000 genomes | rs797044731 |
hgdp | rs797044731 |
ensembl | rs797044731 |
geneview | rs797044731 |
scholar | rs797044731 |
rs797044731 | |
pharmgkb | rs797044731 |
gwascentral | rs797044731 |
openSNP | rs797044731 |
23andMe | rs797044731 |
SNPshot | rs797044731 |
SNPdbe | rs797044731 |
MSV3d | rs797044731 |
GWAS Ctlg | rs797044731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044731(A;A) |
Alt | rs797044731(A;A) |
Reference | Rs797044731(T;T) |
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.53247014A>T |
CLNSRC | |
CLNACC | RCV000178206.1, |