rs879255555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255555(A;A) |
Make rs879255555(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 70744422 |
Gene | VAC14 |
is a | snp |
is | mentioned by |
dbSNP | rs879255555 |
dbSNP (classic) | rs879255555 |
ClinGen | rs879255555 |
ebi | rs879255555 |
HLI | rs879255555 |
Exac | rs879255555 |
Gnomad | rs879255555 |
Varsome | rs879255555 |
LitVar | rs879255555 |
Map | rs879255555 |
PheGenI | rs879255555 |
Biobank | rs879255555 |
1000 genomes | rs879255555 |
hgdp | rs879255555 |
ensembl | rs879255555 |
geneview | rs879255555 |
scholar | rs879255555 |
rs879255555 | |
pharmgkb | rs879255555 |
gwascentral | rs879255555 |
openSNP | rs879255555 |
23andMe | rs879255555 |
SNPshot | rs879255555 |
SNPdbe | rs879255555 |
MSV3d | rs879255555 |
GWAS Ctlg | rs879255555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255555(A;A) |
Alt | rs879255555(A;A) |
Reference | Rs879255555(G;G) |
Significance | Pathogenic |
Disease | Striatonigral degeneration |
Variation | info |
Gene | VAC14 |
CLNDBN | Striatonigral degeneration, childhood-onset |
Reversed | 1 |
HGVS | NC_000016.9:g.70778325C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239487.1, |