rs773138218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs773138218(A;A) |
Make rs773138218(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 96846144 |
Gene | VRK1 |
is a | snp |
is | mentioned by |
dbSNP | rs773138218 |
dbSNP (classic) | rs773138218 |
ClinGen | rs773138218 |
ebi | rs773138218 |
HLI | rs773138218 |
Exac | rs773138218 |
Gnomad | rs773138218 |
Varsome | rs773138218 |
LitVar | rs773138218 |
Map | rs773138218 |
PheGenI | rs773138218 |
Biobank | rs773138218 |
1000 genomes | rs773138218 |
hgdp | rs773138218 |
ensembl | rs773138218 |
geneview | rs773138218 |
scholar | rs773138218 |
rs773138218 | |
pharmgkb | rs773138218 |
gwascentral | rs773138218 |
openSNP | rs773138218 |
23andMe | rs773138218 |
SNPshot | rs773138218 |
SNPdbe | rs773138218 |
MSV3d | rs773138218 |
GWAS Ctlg | rs773138218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773138218(A;A) rs773138218(C;C) |
Alt | rs773138218(A;A) rs773138218(C;C) |
Reference | Rs773138218(G;G) |
Significance | Pathogenic |
Disease | not specified Pontocerebellar hypoplasia type 1A not provided |
Variation | info |
Gene | VRK1 |
CLNDBN | not specified Pontocerebellar hypoplasia type 1A not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.97312481G>A; NC_000014.8:g.97312481G>C |
CLNSRC | |
CLNACC | RCV000178190.1, RCV000203270.1, RCV000487881.1, |