rs121908680
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908680(G;G) |
Make rs121908680(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 38112212 |
Gene | BAIAP2L2, PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs121908680 |
dbSNP (classic) | rs121908680 |
ClinGen | rs121908680 |
ebi | rs121908680 |
HLI | rs121908680 |
Exac | rs121908680 |
Gnomad | rs121908680 |
Varsome | rs121908680 |
LitVar | rs121908680 |
Map | rs121908680 |
PheGenI | rs121908680 |
Biobank | rs121908680 |
1000 genomes | rs121908680 |
hgdp | rs121908680 |
ensembl | rs121908680 |
geneview | rs121908680 |
scholar | rs121908680 |
rs121908680 | |
pharmgkb | rs121908680 |
gwascentral | rs121908680 |
openSNP | rs121908680 |
23andMe | rs121908680 |
SNPshot | rs121908680 |
SNPdbe | rs121908680 |
MSV3d | rs121908680 |
GWAS Ctlg | rs121908680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908680(G;G) |
Alt | rs121908680(G;G) |
Reference | Rs121908680(T;T) |
Significance | Pathogenic |
Disease | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
Variation | info |
Gene | BAIAP2L2 PLA2G6 |
CLNDBN | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.38508219A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006572.3, RCV000147321.1, RCV000323935.1, |