rs745655924
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs745655924(C;T) |
Make rs745655924(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165754931 |
Gene | GALNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs745655924 |
dbSNP (classic) | rs745655924 |
ClinGen | rs745655924 |
ebi | rs745655924 |
HLI | rs745655924 |
Exac | rs745655924 |
Gnomad | rs745655924 |
Varsome | rs745655924 |
LitVar | rs745655924 |
Map | rs745655924 |
PheGenI | rs745655924 |
Biobank | rs745655924 |
1000 genomes | rs745655924 |
hgdp | rs745655924 |
ensembl | rs745655924 |
geneview | rs745655924 |
scholar | rs745655924 |
rs745655924 | |
pharmgkb | rs745655924 |
gwascentral | rs745655924 |
openSNP | rs745655924 |
23andMe | rs745655924 |
SNPshot | rs745655924 |
SNPdbe | rs745655924 |
MSV3d | rs745655924 |
GWAS Ctlg | rs745655924 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745655924(T;T) |
Alt | rs745655924(T;T) |
Reference | Rs745655924(C;C) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | GALNT3 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 0 |
HGVS | NC_000002.11:g.166611441C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008234.3, |