rs587777185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777185(A;A) |
Make rs587777185(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 7554578 |
Gene | PNPLA6 |
is a | snp |
is | mentioned by |
dbSNP | rs587777185 |
dbSNP (classic) | rs587777185 |
ClinGen | rs587777185 |
ebi | rs587777185 |
HLI | rs587777185 |
Exac | rs587777185 |
Gnomad | rs587777185 |
Varsome | rs587777185 |
LitVar | rs587777185 |
Map | rs587777185 |
PheGenI | rs587777185 |
Biobank | rs587777185 |
1000 genomes | rs587777185 |
hgdp | rs587777185 |
ensembl | rs587777185 |
geneview | rs587777185 |
scholar | rs587777185 |
rs587777185 | |
pharmgkb | rs587777185 |
gwascentral | rs587777185 |
openSNP | rs587777185 |
23andMe | rs587777185 |
SNPshot | rs587777185 |
SNPdbe | rs587777185 |
MSV3d | rs587777185 |
GWAS Ctlg | rs587777185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777185(A;A) |
Alt | rs587777185(A;A) |
Reference | Rs587777185(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 39 |
Variation | info |
Gene | PNPLA6 |
CLNDBN | Spastic paraplegia 39 |
Reversed | 0 |
HGVS | NC_000019.9:g.7619464G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087302.5, |