rs118204450
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118204450(C;T) |
Make rs118204450(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 23845837 |
Gene | FUCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs118204450 |
dbSNP (classic) | rs118204450 |
ClinGen | rs118204450 |
ebi | rs118204450 |
HLI | rs118204450 |
Exac | rs118204450 |
Gnomad | rs118204450 |
Varsome | rs118204450 |
LitVar | rs118204450 |
Map | rs118204450 |
PheGenI | rs118204450 |
Biobank | rs118204450 |
1000 genomes | rs118204450 |
hgdp | rs118204450 |
ensembl | rs118204450 |
geneview | rs118204450 |
scholar | rs118204450 |
rs118204450 | |
pharmgkb | rs118204450 |
gwascentral | rs118204450 |
openSNP | rs118204450 |
23andMe | rs118204450 |
SNPshot | rs118204450 |
SNPdbe | rs118204450 |
MSV3d | rs118204450 |
GWAS Ctlg | rs118204450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118204450(T;T) |
Alt | rs118204450(T;T) |
Reference | Rs118204450(C;C) |
Significance | Pathogenic |
Disease | Fucosidosis |
Variation | info |
Gene | FUCA1 |
CLNDBN | Fucosidosis |
Reversed | 1 |
HGVS | NC_000001.10:g.24172327G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000716.2, |