rs886041936
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | X |
Position | 72495210 |
Gene | HDAC8 |
is a | snp |
is | mentioned by |
dbSNP | rs886041936 |
dbSNP (classic) | rs886041936 |
ClinGen | rs886041936 |
ebi | rs886041936 |
HLI | rs886041936 |
Exac | rs886041936 |
Gnomad | rs886041936 |
Varsome | rs886041936 |
LitVar | rs886041936 |
Map | rs886041936 |
PheGenI | rs886041936 |
Biobank | rs886041936 |
1000 genomes | rs886041936 |
hgdp | rs886041936 |
ensembl | rs886041936 |
geneview | rs886041936 |
scholar | rs886041936 |
rs886041936 | |
pharmgkb | rs886041936 |
gwascentral | rs886041936 |
openSNP | rs886041936 |
23andMe | rs886041936 |
SNPshot | rs886041936 |
SNPdbe | rs886041936 |
MSV3d | rs886041936 |
GWAS Ctlg | rs886041936 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041936(T;T) |
Alt | rs886041936(T;T) |
Reference | Rs886041936(C;C) |
Significance | Pathogenic |
Disease | not provided Abnormal facial shape Delayed speech and language development Global developmental delay Intrauterine growth retardation Microcephaly Sparse scalp hair |
Variation | info |
Gene | HDAC8 |
CLNDBN | not provided Abnormal facial shape Delayed speech and language development Global developmental delay Intrauterine growth retardation Microcephaly Sparse scalp hair |
Reversed | 1 |
HGVS | NC_000023.10:g.71715060G>A |
CLNSRC | |
CLNACC | RCV000302320.1, RCV000415456.1, |