rs797044951
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044951(A;A) |
Make rs797044951(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 56351396 |
Gene | GNAO1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044951 |
dbSNP (classic) | rs797044951 |
ClinGen | rs797044951 |
ebi | rs797044951 |
HLI | rs797044951 |
Exac | rs797044951 |
Gnomad | rs797044951 |
Varsome | rs797044951 |
LitVar | rs797044951 |
Map | rs797044951 |
PheGenI | rs797044951 |
Biobank | rs797044951 |
1000 genomes | rs797044951 |
hgdp | rs797044951 |
ensembl | rs797044951 |
geneview | rs797044951 |
scholar | rs797044951 |
rs797044951 | |
pharmgkb | rs797044951 |
gwascentral | rs797044951 |
openSNP | rs797044951 |
23andMe | rs797044951 |
SNPshot | rs797044951 |
SNPdbe | rs797044951 |
MSV3d | rs797044951 |
GWAS Ctlg | rs797044951 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044951(A;A) |
Alt | rs797044951(A;A) |
Reference | Rs797044951(G;G) |
Significance | Pathogenic |
Disease | Inborn genetic diseases not provided Neurodevelopmental disorder with involuntary movements |
Variation | info |
Gene | GNAO1 |
CLNDBN | Inborn genetic diseases not provided Neurodevelopmental disorder with involuntary movements |
Reversed | 0 |
HGVS | NC_000016.9:g.56385308G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190803.1, RCV000254701.1, RCV000490631.1, |