rs760830864
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs760830864(A;A) |
Make rs760830864(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165754626 |
Gene | GALNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs760830864 |
dbSNP (classic) | rs760830864 |
ClinGen | rs760830864 |
ebi | rs760830864 |
HLI | rs760830864 |
Exac | rs760830864 |
Gnomad | rs760830864 |
Varsome | rs760830864 |
LitVar | rs760830864 |
Map | rs760830864 |
PheGenI | rs760830864 |
Biobank | rs760830864 |
1000 genomes | rs760830864 |
hgdp | rs760830864 |
ensembl | rs760830864 |
geneview | rs760830864 |
scholar | rs760830864 |
rs760830864 | |
pharmgkb | rs760830864 |
gwascentral | rs760830864 |
openSNP | rs760830864 |
23andMe | rs760830864 |
SNPshot | rs760830864 |
SNPdbe | rs760830864 |
MSV3d | rs760830864 |
GWAS Ctlg | rs760830864 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760830864(A;A) |
Alt | rs760830864(A;A) |
Reference | Rs760830864(C;C) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | GALNT3 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 0 |
HGVS | NC_000002.11:g.166611136C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008244.5, |