rs749094914
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749094914(C;T) |
Make rs749094914(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 70698729 |
Gene | VAC14 |
is a | snp |
is | mentioned by |
dbSNP | rs749094914 |
dbSNP (classic) | rs749094914 |
ClinGen | rs749094914 |
ebi | rs749094914 |
HLI | rs749094914 |
Exac | rs749094914 |
Gnomad | rs749094914 |
Varsome | rs749094914 |
LitVar | rs749094914 |
Map | rs749094914 |
PheGenI | rs749094914 |
Biobank | rs749094914 |
1000 genomes | rs749094914 |
hgdp | rs749094914 |
ensembl | rs749094914 |
geneview | rs749094914 |
scholar | rs749094914 |
rs749094914 | |
pharmgkb | rs749094914 |
gwascentral | rs749094914 |
openSNP | rs749094914 |
23andMe | rs749094914 |
SNPshot | rs749094914 |
SNPdbe | rs749094914 |
MSV3d | rs749094914 |
GWAS Ctlg | rs749094914 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749094914(A;A) rs749094914(T;T) |
Alt | rs749094914(A;A) rs749094914(T;T) |
Reference | Rs749094914(C;C) |
Significance | Pathogenic |
Disease | Striatonigral degeneration |
Variation | info |
Gene | VAC14 |
CLNDBN | Striatonigral degeneration, childhood-onset |
Reversed | 0 |
HGVS | NC_000016.9:g.70732632C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239537.1, |