rs483353028
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs483353028(G;G) |
Make rs483353028(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 54283877 |
Gene | HNRNPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs483353028 |
dbSNP (classic) | rs483353028 |
ClinGen | rs483353028 |
ebi | rs483353028 |
HLI | rs483353028 |
Exac | rs483353028 |
Gnomad | rs483353028 |
Varsome | rs483353028 |
LitVar | rs483353028 |
Map | rs483353028 |
PheGenI | rs483353028 |
Biobank | rs483353028 |
1000 genomes | rs483353028 |
hgdp | rs483353028 |
ensembl | rs483353028 |
geneview | rs483353028 |
scholar | rs483353028 |
rs483353028 | |
pharmgkb | rs483353028 |
gwascentral | rs483353028 |
openSNP | rs483353028 |
23andMe | rs483353028 |
SNPshot | rs483353028 |
SNPdbe | rs483353028 |
MSV3d | rs483353028 |
GWAS Ctlg | rs483353028 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353028(C;C) rs483353028(G;G) |
Alt | rs483353028(C;C) rs483353028(G;G) |
Reference | Rs483353028(T;T) |
Significance | Pathogenic |
Disease | Chronic progressive multiple sclerosis |
Variation | info |
Gene | HNRNPA1 |
CLNDBN | Chronic progressive multiple sclerosis |
Reversed | 0 |
HGVS | NC_000012.11:g.54677661T>C; NC_000012.11:g.54677661T>G |
CLNSRC | |
CLNACC | RCV000122443.1, RCV000122444.1, |