rs762388639
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs762388639(A;A) |
Make rs762388639(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 70762915 |
Gene | VAC14, VAC14-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs762388639 |
dbSNP (classic) | rs762388639 |
ClinGen | rs762388639 |
ebi | rs762388639 |
HLI | rs762388639 |
Exac | rs762388639 |
Gnomad | rs762388639 |
Varsome | rs762388639 |
LitVar | rs762388639 |
Map | rs762388639 |
PheGenI | rs762388639 |
Biobank | rs762388639 |
1000 genomes | rs762388639 |
hgdp | rs762388639 |
ensembl | rs762388639 |
geneview | rs762388639 |
scholar | rs762388639 |
rs762388639 | |
pharmgkb | rs762388639 |
gwascentral | rs762388639 |
openSNP | rs762388639 |
23andMe | rs762388639 |
SNPshot | rs762388639 |
SNPdbe | rs762388639 |
MSV3d | rs762388639 |
GWAS Ctlg | rs762388639 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762388639(A;A) |
Alt | rs762388639(A;A) |
Reference | Rs762388639(C;C) |
Significance | Pathogenic |
Disease | Striatonigral degeneration |
Variation | info |
Gene | VAC14 VAC14-AS1 |
CLNDBN | Striatonigral degeneration, childhood-onset |
Reversed | 0 |
HGVS | NC_000016.9:g.70796818C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239574.1, |