rs145580093
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs145580093(C;C) |
Make rs145580093(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 14 |
Position | 87986582 |
Gene | GALC |
is a | snp |
is | mentioned by |
dbSNP | rs145580093 |
dbSNP (classic) | rs145580093 |
ClinGen | rs145580093 |
ebi | rs145580093 |
HLI | rs145580093 |
Exac | rs145580093 |
Gnomad | rs145580093 |
Varsome | rs145580093 |
LitVar | rs145580093 |
Map | rs145580093 |
PheGenI | rs145580093 |
Biobank | rs145580093 |
1000 genomes | rs145580093 |
hgdp | rs145580093 |
ensembl | rs145580093 |
geneview | rs145580093 |
scholar | rs145580093 |
rs145580093 | |
pharmgkb | rs145580093 |
gwascentral | rs145580093 |
openSNP | rs145580093 |
23andMe | rs145580093 |
SNPshot | rs145580093 |
SNPdbe | rs145580093 |
MSV3d | rs145580093 |
GWAS Ctlg | rs145580093 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145580093(C;C) |
Alt | rs145580093(C;C) |
Reference | Rs145580093(T;T) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | GALC |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000014.8:g.88452926T>C |
CLNSRC | |
CLNACC | RCV000078201.6, RCV000259045.1, |