rs780136067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs780136067(-;G) |
Make rs780136067(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 34637288 |
Gene | SIGMAR1 |
is a | snp |
is | mentioned by |
dbSNP | rs780136067 |
dbSNP (classic) | rs780136067 |
ClinGen | rs780136067 |
ebi | rs780136067 |
HLI | rs780136067 |
Exac | rs780136067 |
Gnomad | rs780136067 |
Varsome | rs780136067 |
LitVar | rs780136067 |
Map | rs780136067 |
PheGenI | rs780136067 |
Biobank | rs780136067 |
1000 genomes | rs780136067 |
hgdp | rs780136067 |
ensembl | rs780136067 |
geneview | rs780136067 |
scholar | rs780136067 |
rs780136067 | |
pharmgkb | rs780136067 |
gwascentral | rs780136067 |
openSNP | rs780136067 |
23andMe | rs780136067 |
SNPshot | rs780136067 |
SNPdbe | rs780136067 |
MSV3d | rs780136067 |
GWAS Ctlg | rs780136067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780136067(G;G) |
Alt | rs780136067(G;G) |
Reference | Rs780136067(-;-) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis 16 |
Variation | info |
Gene | SIGMAR1 |
CLNDBN | Amyotrophic lateral sclerosis 16, juvenile |
Reversed | 0 |
HGVS | NC_000009.11:g.34637286dupG |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191128.1, |