rs121908681
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908681(A;C) |
Make rs121908681(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 38120867 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs121908681 |
dbSNP (classic) | rs121908681 |
ClinGen | rs121908681 |
ebi | rs121908681 |
HLI | rs121908681 |
Exac | rs121908681 |
Gnomad | rs121908681 |
Varsome | rs121908681 |
LitVar | rs121908681 |
Map | rs121908681 |
PheGenI | rs121908681 |
Biobank | rs121908681 |
1000 genomes | rs121908681 |
hgdp | rs121908681 |
ensembl | rs121908681 |
geneview | rs121908681 |
scholar | rs121908681 |
rs121908681 | |
pharmgkb | rs121908681 |
gwascentral | rs121908681 |
openSNP | rs121908681 |
23andMe | rs121908681 |
SNPshot | rs121908681 |
SNPdbe | rs121908681 |
MSV3d | rs121908681 |
GWAS Ctlg | rs121908681 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908681(C;C) rs121908681(G;G) |
Alt | rs121908681(C;C) rs121908681(G;G) |
Reference | Rs121908681(A;A) |
Significance | Pathogenic |
Disease | Iron accumulation in brain Neurodegeneration with brain iron accumulation 2b |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Iron accumulation in brain Neurodegeneration with brain iron accumulation 2b |
Reversed | 1 |
HGVS | NC_000022.10:g.38516874T>C; NC_000022.10:g.38516874T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000147296.1, RCV000006573.2, |