rs766750282
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs766750282(-;G) |
Make rs766750282(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165761939 |
Gene | GALNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs766750282 |
dbSNP (classic) | rs766750282 |
ClinGen | rs766750282 |
ebi | rs766750282 |
HLI | rs766750282 |
Exac | rs766750282 |
Gnomad | rs766750282 |
Varsome | rs766750282 |
LitVar | rs766750282 |
Map | rs766750282 |
PheGenI | rs766750282 |
Biobank | rs766750282 |
1000 genomes | rs766750282 |
hgdp | rs766750282 |
ensembl | rs766750282 |
geneview | rs766750282 |
scholar | rs766750282 |
rs766750282 | |
pharmgkb | rs766750282 |
gwascentral | rs766750282 |
openSNP | rs766750282 |
23andMe | rs766750282 |
SNPshot | rs766750282 |
SNPdbe | rs766750282 |
MSV3d | rs766750282 |
GWAS Ctlg | rs766750282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766750282(G;G) |
Alt | rs766750282(G;G) |
Reference | Rs766750282(-;-) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | GALNT3 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 0 |
HGVS | NC_000002.11:g.166618450dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008243.3, |