rs121909054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909054(A;A) |
Make rs121909054(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 167825264 |
Gene | SERPINI1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909054 |
dbSNP (classic) | rs121909054 |
ClinGen | rs121909054 |
ebi | rs121909054 |
HLI | rs121909054 |
Exac | rs121909054 |
Gnomad | rs121909054 |
Varsome | rs121909054 |
LitVar | rs121909054 |
Map | rs121909054 |
PheGenI | rs121909054 |
Biobank | rs121909054 |
1000 genomes | rs121909054 |
hgdp | rs121909054 |
ensembl | rs121909054 |
geneview | rs121909054 |
scholar | rs121909054 |
rs121909054 | |
pharmgkb | rs121909054 |
gwascentral | rs121909054 |
openSNP | rs121909054 |
23andMe | rs121909054 |
SNPshot | rs121909054 |
SNPdbe | rs121909054 |
MSV3d | rs121909054 |
GWAS Ctlg | rs121909054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909054(A;A) |
Alt | rs121909054(A;A) |
Reference | Rs121909054(G;G) |
Significance | Pathogenic |
Disease | Encephalopathy |
Variation | info |
Gene | SERPINI1 |
CLNDBN | Encephalopathy, familial, with neuroserpin inclusion bodies |
Reversed | 0 |
HGVS | NC_000003.11:g.167543052G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007506.3, |