rs121913549
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121913549(A;A) |
Make rs121913549(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 69350194 |
Gene | LYZ |
is a | snp |
is | mentioned by |
dbSNP | rs121913549 |
dbSNP (classic) | rs121913549 |
ClinGen | rs121913549 |
ebi | rs121913549 |
HLI | rs121913549 |
Exac | rs121913549 |
Gnomad | rs121913549 |
Varsome | rs121913549 |
LitVar | rs121913549 |
Map | rs121913549 |
PheGenI | rs121913549 |
Biobank | rs121913549 |
1000 genomes | rs121913549 |
hgdp | rs121913549 |
ensembl | rs121913549 |
geneview | rs121913549 |
scholar | rs121913549 |
rs121913549 | |
pharmgkb | rs121913549 |
gwascentral | rs121913549 |
openSNP | rs121913549 |
23andMe | rs121913549 |
SNPshot | rs121913549 |
SNPdbe | rs121913549 |
MSV3d | rs121913549 |
GWAS Ctlg | rs121913549 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913549(A;A) |
Alt | rs121913549(A;A) |
Reference | Rs121913549(T;T) |
Significance | Pathogenic |
Disease | Familial visceral amyloidosis |
Variation | info |
Gene | LYZ |
CLNDBN | Familial visceral amyloidosis, Ostertag type |
Reversed | 0 |
HGVS | NC_000012.11:g.69743974T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015453.27, |