rs761396172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs761396172(C;C) |
Make rs761396172(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165765058 |
Gene | GALNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs761396172 |
dbSNP (classic) | rs761396172 |
ClinGen | rs761396172 |
ebi | rs761396172 |
HLI | rs761396172 |
Exac | rs761396172 |
Gnomad | rs761396172 |
Varsome | rs761396172 |
LitVar | rs761396172 |
Map | rs761396172 |
PheGenI | rs761396172 |
Biobank | rs761396172 |
1000 genomes | rs761396172 |
hgdp | rs761396172 |
ensembl | rs761396172 |
geneview | rs761396172 |
scholar | rs761396172 |
rs761396172 | |
pharmgkb | rs761396172 |
gwascentral | rs761396172 |
openSNP | rs761396172 |
23andMe | rs761396172 |
SNPshot | rs761396172 |
SNPdbe | rs761396172 |
MSV3d | rs761396172 |
GWAS Ctlg | rs761396172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761396172(A;A) rs761396172(C;C) |
Alt | rs761396172(A;A) rs761396172(C;C) |
Reference | Rs761396172(T;T) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | GALNT3 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 0 |
HGVS | NC_000002.11:g.166621568T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008237.4, |