rs730880422
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880422(C;T) |
Make rs730880422(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 8745853 |
Gene | CAV3, SSUH2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880422 |
dbSNP (classic) | rs730880422 |
ClinGen | rs730880422 |
ebi | rs730880422 |
HLI | rs730880422 |
Exac | rs730880422 |
Gnomad | rs730880422 |
Varsome | rs730880422 |
LitVar | rs730880422 |
Map | rs730880422 |
PheGenI | rs730880422 |
Biobank | rs730880422 |
1000 genomes | rs730880422 |
hgdp | rs730880422 |
ensembl | rs730880422 |
geneview | rs730880422 |
scholar | rs730880422 |
rs730880422 | |
pharmgkb | rs730880422 |
gwascentral | rs730880422 |
openSNP | rs730880422 |
23andMe | rs730880422 |
SNPshot | rs730880422 |
SNPdbe | rs730880422 |
MSV3d | rs730880422 |
GWAS Ctlg | rs730880422 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880422(T;T) |
Alt | rs730880422(T;T) |
Reference | Rs730880422(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | SSUH2 CAV3 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.8787539C>T |
CLNSRC | |
CLNACC | RCV000157841.1, RCV000223776.1, |