rs76794400
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs76794400(C;C) |
Make rs76794400(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 25339138 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs76794400 |
dbSNP (classic) | rs76794400 |
ClinGen | rs76794400 |
ebi | rs76794400 |
HLI | rs76794400 |
Exac | rs76794400 |
Gnomad | rs76794400 |
Varsome | rs76794400 |
LitVar | rs76794400 |
Map | rs76794400 |
PheGenI | rs76794400 |
Biobank | rs76794400 |
1000 genomes | rs76794400 |
hgdp | rs76794400 |
ensembl | rs76794400 |
geneview | rs76794400 |
scholar | rs76794400 |
rs76794400 | |
pharmgkb | rs76794400 |
gwascentral | rs76794400 |
openSNP | rs76794400 |
23andMe | rs76794400 |
SNPshot | rs76794400 |
SNPdbe | rs76794400 |
MSV3d | rs76794400 |
GWAS Ctlg | rs76794400 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76794400(A;A) rs76794400(C;C) |
Alt | rs76794400(A;A) rs76794400(C;C) |
Reference | Rs76794400(T;T) |
Significance | Pathogenic |
Disease | Angelman syndrome not specified not provided |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome not specified not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.25584285T>A; NC_000015.9:g.25584285T>C |
CLNSRC | ClinVar Emory University GeneDx University of Chicago |
CLNACC | RCV000144554.1, RCV000082348.6, RCV000443306.1, RCV000470827.1, |