rs80358197
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs80358197(A;A) |
Make rs80358197(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 23848649 |
Gene | FUCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358197 |
dbSNP (classic) | rs80358197 |
ClinGen | rs80358197 |
ebi | rs80358197 |
HLI | rs80358197 |
Exac | rs80358197 |
Gnomad | rs80358197 |
Varsome | rs80358197 |
LitVar | rs80358197 |
Map | rs80358197 |
PheGenI | rs80358197 |
Biobank | rs80358197 |
1000 genomes | rs80358197 |
hgdp | rs80358197 |
ensembl | rs80358197 |
geneview | rs80358197 |
scholar | rs80358197 |
rs80358197 | |
pharmgkb | rs80358197 |
gwascentral | rs80358197 |
openSNP | rs80358197 |
23andMe | rs80358197 |
SNPshot | rs80358197 |
SNPdbe | rs80358197 |
MSV3d | rs80358197 |
GWAS Ctlg | rs80358197 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358197(A;A) |
Alt | rs80358197(A;A) |
Reference | Rs80358197(G;G) |
Significance | Pathogenic |
Disease | Fucosidosis |
Variation | info |
Gene | FUCA1 |
CLNDBN | Fucosidosis |
Reversed | 1 |
HGVS | NC_000001.10:g.24175139C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000721.2, |