rs794729212
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794729212(A;A) |
Make rs794729212(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 38115619 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs794729212 |
dbSNP (classic) | rs794729212 |
ClinGen | rs794729212 |
ebi | rs794729212 |
HLI | rs794729212 |
Exac | rs794729212 |
Gnomad | rs794729212 |
Varsome | rs794729212 |
LitVar | rs794729212 |
Map | rs794729212 |
PheGenI | rs794729212 |
Biobank | rs794729212 |
1000 genomes | rs794729212 |
hgdp | rs794729212 |
ensembl | rs794729212 |
geneview | rs794729212 |
scholar | rs794729212 |
rs794729212 | |
pharmgkb | rs794729212 |
gwascentral | rs794729212 |
openSNP | rs794729212 |
23andMe | rs794729212 |
SNPshot | rs794729212 |
SNPdbe | rs794729212 |
MSV3d | rs794729212 |
GWAS Ctlg | rs794729212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729212(A;A) |
Alt | rs794729212(A;A) |
Reference | Rs794729212(G;G) |
Significance | Probable-Pathogenic |
Disease | Infantile neuroaxonal dystrophy |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Infantile neuroaxonal dystrophy |
Reversed | 1 |
HGVS | NC_000022.10:g.38511626C>T |
CLNSRC | |
CLNACC | RCV000184033.1, |