rs375879489
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375879489(C;T) |
Make rs375879489(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165754927 |
Gene | GALNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs375879489 |
dbSNP (classic) | rs375879489 |
ClinGen | rs375879489 |
ebi | rs375879489 |
HLI | rs375879489 |
Exac | rs375879489 |
Gnomad | rs375879489 |
Varsome | rs375879489 |
LitVar | rs375879489 |
Map | rs375879489 |
PheGenI | rs375879489 |
Biobank | rs375879489 |
1000 genomes | rs375879489 |
hgdp | rs375879489 |
ensembl | rs375879489 |
geneview | rs375879489 |
scholar | rs375879489 |
rs375879489 | |
pharmgkb | rs375879489 |
gwascentral | rs375879489 |
openSNP | rs375879489 |
23andMe | rs375879489 |
SNPshot | rs375879489 |
SNPdbe | rs375879489 |
MSV3d | rs375879489 |
GWAS Ctlg | rs375879489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375879489(G;G) rs375879489(T;T) |
Alt | rs375879489(G;G) rs375879489(T;T) |
Reference | Rs375879489(C;C) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | GALNT3 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 0 |
HGVS | NC_000002.11:g.166611437C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008236.4, |