rs786205250
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205250(-;-) |
Make rs786205250(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165764895 |
Gene | GALNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205250 |
dbSNP (classic) | rs786205250 |
ClinGen | rs786205250 |
ebi | rs786205250 |
HLI | rs786205250 |
Exac | rs786205250 |
Gnomad | rs786205250 |
Varsome | rs786205250 |
LitVar | rs786205250 |
Map | rs786205250 |
PheGenI | rs786205250 |
Biobank | rs786205250 |
1000 genomes | rs786205250 |
hgdp | rs786205250 |
ensembl | rs786205250 |
geneview | rs786205250 |
scholar | rs786205250 |
rs786205250 | |
pharmgkb | rs786205250 |
gwascentral | rs786205250 |
openSNP | rs786205250 |
23andMe | rs786205250 |
SNPshot | rs786205250 |
SNPdbe | rs786205250 |
MSV3d | rs786205250 |
GWAS Ctlg | rs786205250 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205250(-;-) |
Alt | rs786205250(-;-) |
Reference | Rs786205250(C;C) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | GALNT3 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 1 |
HGVS | NC_000002.11:g.166621405delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008245.4, |