rs74315473
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315473(C;T) |
Make rs74315473(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50626265 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs74315473 |
dbSNP (classic) | rs74315473 |
ClinGen | rs74315473 |
ebi | rs74315473 |
HLI | rs74315473 |
Exac | rs74315473 |
Gnomad | rs74315473 |
Varsome | rs74315473 |
LitVar | rs74315473 |
Map | rs74315473 |
PheGenI | rs74315473 |
Biobank | rs74315473 |
1000 genomes | rs74315473 |
hgdp | rs74315473 |
ensembl | rs74315473 |
geneview | rs74315473 |
scholar | rs74315473 |
rs74315473 | |
pharmgkb | rs74315473 |
gwascentral | rs74315473 |
openSNP | rs74315473 |
23andMe | rs74315473 |
SNPshot | rs74315473 |
SNPdbe | rs74315473 |
MSV3d | rs74315473 |
GWAS Ctlg | rs74315473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315473(T;T) |
Alt | rs74315473(T;T) |
Reference | Rs74315473(C;C) |
Significance | Other |
Disease | Metachromatic leukodystrophy |
Variation | info |
Gene | ARSA |
CLNDBN | Metachromatic leukodystrophy |
Reversed | 1 |
HGVS | NC_000022.10:g.51064693G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003223.3, |