rs28931574
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28931574(C;C) |
Make rs28931574(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 116837053 |
Gene | APOA1, APOA1-AS |
is a | snp |
is | mentioned by |
dbSNP | rs28931574 |
dbSNP (classic) | rs28931574 |
ClinGen | rs28931574 |
ebi | rs28931574 |
HLI | rs28931574 |
Exac | rs28931574 |
Gnomad | rs28931574 |
Varsome | rs28931574 |
LitVar | rs28931574 |
Map | rs28931574 |
PheGenI | rs28931574 |
Biobank | rs28931574 |
1000 genomes | rs28931574 |
hgdp | rs28931574 |
ensembl | rs28931574 |
geneview | rs28931574 |
scholar | rs28931574 |
rs28931574 | |
pharmgkb | rs28931574 |
gwascentral | rs28931574 |
openSNP | rs28931574 |
23andMe | rs28931574 |
SNPshot | rs28931574 |
SNPdbe | rs28931574 |
MSV3d | rs28931574 |
GWAS Ctlg | rs28931574 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28931574(A;A) rs28931574(C;C) |
Alt | rs28931574(A;A) rs28931574(C;C) |
Reference | Rs28931574(G;G) |
Significance | Pathogenic |
Disease | Familial amyloid polyneuropathy |
Variation | info |
Gene | APOA1-AS APOA1 |
CLNDBN | Familial amyloid polyneuropathy, Iowa type |
Reversed | 1 |
HGVS | NC_000011.9:g.116707769C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019506.25, |