rs200532368
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200532368(A;A) |
Make rs200532368(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 87986552 |
Gene | GALC |
is a | snp |
is | mentioned by |
dbSNP | rs200532368 |
dbSNP (classic) | rs200532368 |
ClinGen | rs200532368 |
ebi | rs200532368 |
HLI | rs200532368 |
Exac | rs200532368 |
Gnomad | rs200532368 |
Varsome | rs200532368 |
LitVar | rs200532368 |
Map | rs200532368 |
PheGenI | rs200532368 |
Biobank | rs200532368 |
1000 genomes | rs200532368 |
hgdp | rs200532368 |
ensembl | rs200532368 |
geneview | rs200532368 |
scholar | rs200532368 |
rs200532368 | |
pharmgkb | rs200532368 |
gwascentral | rs200532368 |
openSNP | rs200532368 |
23andMe | rs200532368 |
SNPshot | rs200532368 |
SNPdbe | rs200532368 |
MSV3d | rs200532368 |
GWAS Ctlg | rs200532368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200532368(A;A) rs200532368(C;C) |
Alt | rs200532368(A;A) rs200532368(C;C) |
Reference | Rs200532368(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | GALC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.88452896G>A |
CLNSRC | |
CLNACC | RCV000493135.1, |