rs200075782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200075782(A;A) |
Make rs200075782(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 38169318 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs200075782 |
dbSNP (classic) | rs200075782 |
ClinGen | rs200075782 |
ebi | rs200075782 |
HLI | rs200075782 |
Exac | rs200075782 |
Gnomad | rs200075782 |
Varsome | rs200075782 |
LitVar | rs200075782 |
Map | rs200075782 |
PheGenI | rs200075782 |
Biobank | rs200075782 |
1000 genomes | rs200075782 |
hgdp | rs200075782 |
ensembl | rs200075782 |
geneview | rs200075782 |
scholar | rs200075782 |
rs200075782 | |
pharmgkb | rs200075782 |
gwascentral | rs200075782 |
openSNP | rs200075782 |
23andMe | rs200075782 |
SNPshot | rs200075782 |
SNPdbe | rs200075782 |
MSV3d | rs200075782 |
GWAS Ctlg | rs200075782 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200075782(A;A) |
Alt | rs200075782(A;A) |
Reference | Rs200075782(G;G) |
Significance | Pathogenic |
Disease | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.38565325G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023318.4, RCV000147282.1, RCV000255026.1, |