rs483353023
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(G;G) | 1 | Likely to be a miscall; otherwise, reported for chronic progressive MS |
Make rs483353023(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 54283853 |
Gene | HNRNPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs483353023 |
dbSNP (classic) | rs483353023 |
ClinGen | rs483353023 |
ebi | rs483353023 |
HLI | rs483353023 |
Exac | rs483353023 |
Gnomad | rs483353023 |
Varsome | rs483353023 |
LitVar | rs483353023 |
Map | rs483353023 |
PheGenI | rs483353023 |
Biobank | rs483353023 |
1000 genomes | rs483353023 |
hgdp | rs483353023 |
ensembl | rs483353023 |
geneview | rs483353023 |
scholar | rs483353023 |
rs483353023 | |
pharmgkb | rs483353023 |
gwascentral | rs483353023 |
openSNP | rs483353023 |
23andMe | rs483353023 |
SNPshot | rs483353023 |
SNPdbe | rs483353023 |
MSV3d | rs483353023 |
GWAS Ctlg | rs483353023 |
Max Magnitude | 1 |
ClinVar | |
---|---|
Risk | Rs483353023(G;G) |
Alt | Rs483353023(G;G) |
Reference | Rs483353023(A;A) |
Significance | Probable-Pathogenic |
Disease | Chronic progressive multiple sclerosis |
Variation | info |
Gene | HNRNPA1 |
CLNDBN | Chronic progressive multiple sclerosis |
Reversed | 0 |
HGVS | NC_000012.11:g.54677637A>G |
CLNSRC | |
CLNACC | RCV000122442.1, |