rs863225150
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863225150(C;T) |
Make rs863225150(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 41355008 |
Gene | B9D2, TGFB1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225150 |
dbSNP (classic) | rs863225150 |
ClinGen | rs863225150 |
ebi | rs863225150 |
HLI | rs863225150 |
Exac | rs863225150 |
Gnomad | rs863225150 |
Varsome | rs863225150 |
LitVar | rs863225150 |
Map | rs863225150 |
PheGenI | rs863225150 |
Biobank | rs863225150 |
1000 genomes | rs863225150 |
hgdp | rs863225150 |
ensembl | rs863225150 |
geneview | rs863225150 |
scholar | rs863225150 |
rs863225150 | |
pharmgkb | rs863225150 |
gwascentral | rs863225150 |
openSNP | rs863225150 |
23andMe | rs863225150 |
SNPshot | rs863225150 |
SNPdbe | rs863225150 |
MSV3d | rs863225150 |
GWAS Ctlg | rs863225150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225150(T;T) |
Alt | rs863225150(T;T) |
Reference | Rs863225150(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | B9D2 TGFB1 TMEM91 |
CLNDBN | Joubert syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.41860913G>A |
CLNSRC | |
CLNACC | RCV000201694.1, |