rs121434415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121434415(A;G) |
Make rs121434415(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 7556507 |
Gene | PNPLA6 |
is a | snp |
is | mentioned by |
dbSNP | rs121434415 |
dbSNP (classic) | rs121434415 |
ClinGen | rs121434415 |
ebi | rs121434415 |
HLI | rs121434415 |
Exac | rs121434415 |
Gnomad | rs121434415 |
Varsome | rs121434415 |
LitVar | rs121434415 |
Map | rs121434415 |
PheGenI | rs121434415 |
Biobank | rs121434415 |
1000 genomes | rs121434415 |
hgdp | rs121434415 |
ensembl | rs121434415 |
geneview | rs121434415 |
scholar | rs121434415 |
rs121434415 | |
pharmgkb | rs121434415 |
gwascentral | rs121434415 |
openSNP | rs121434415 |
23andMe | rs121434415 |
SNPshot | rs121434415 |
SNPdbe | rs121434415 |
MSV3d | rs121434415 |
GWAS Ctlg | rs121434415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434415(G;G) |
Alt | rs121434415(G;G) |
Reference | Rs121434415(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 39 |
Variation | info |
Gene | PNPLA6 |
CLNDBN | Spastic paraplegia 39 |
Reversed | 0 |
HGVS | NC_000019.9:g.7621393A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006984.2, |