rs121908685
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908685(A;A) |
Make rs121908685(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 38145625 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs121908685 |
dbSNP (classic) | rs121908685 |
ClinGen | rs121908685 |
ebi | rs121908685 |
HLI | rs121908685 |
Exac | rs121908685 |
Gnomad | rs121908685 |
Varsome | rs121908685 |
LitVar | rs121908685 |
Map | rs121908685 |
PheGenI | rs121908685 |
Biobank | rs121908685 |
1000 genomes | rs121908685 |
hgdp | rs121908685 |
ensembl | rs121908685 |
geneview | rs121908685 |
scholar | rs121908685 |
rs121908685 | |
pharmgkb | rs121908685 |
gwascentral | rs121908685 |
openSNP | rs121908685 |
23andMe | rs121908685 |
SNPshot | rs121908685 |
SNPdbe | rs121908685 |
MSV3d | rs121908685 |
GWAS Ctlg | rs121908685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908685(A;A) rs121908685(T;T) |
Alt | rs121908685(A;A) rs121908685(T;T) |
Reference | Rs121908685(G;G) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 2b |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Neurodegeneration with brain iron accumulation 2b |
Reversed | 1 |
HGVS | NC_000022.10:g.38541632C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006580.3, |