rs121913548
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913548(C;C) |
Make rs121913548(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 69350224 |
Gene | LYZ |
is a | snp |
is | mentioned by |
dbSNP | rs121913548 |
dbSNP (classic) | rs121913548 |
ClinGen | rs121913548 |
ebi | rs121913548 |
HLI | rs121913548 |
Exac | rs121913548 |
Gnomad | rs121913548 |
Varsome | rs121913548 |
LitVar | rs121913548 |
Map | rs121913548 |
PheGenI | rs121913548 |
Biobank | rs121913548 |
1000 genomes | rs121913548 |
hgdp | rs121913548 |
ensembl | rs121913548 |
geneview | rs121913548 |
scholar | rs121913548 |
rs121913548 | |
pharmgkb | rs121913548 |
gwascentral | rs121913548 |
openSNP | rs121913548 |
23andMe | rs121913548 |
SNPshot | rs121913548 |
SNPdbe | rs121913548 |
MSV3d | rs121913548 |
GWAS Ctlg | rs121913548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913548(C;C) |
Alt | rs121913548(C;C) |
Reference | Rs121913548(G;G) |
Significance | Pathogenic |
Disease | Familial visceral amyloidosis |
Variation | info |
Gene | LYZ |
CLNDBN | Familial visceral amyloidosis, Ostertag type |
Reversed | 0 |
HGVS | NC_000012.11:g.69744004G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015451.24, |