rs373478202
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373478202(A;A) |
Make rs373478202(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 19347840 |
Gene | B9D1 |
is a | snp |
is | mentioned by |
dbSNP | rs373478202 |
dbSNP (classic) | rs373478202 |
ClinGen | rs373478202 |
ebi | rs373478202 |
HLI | rs373478202 |
Exac | rs373478202 |
Gnomad | rs373478202 |
Varsome | rs373478202 |
LitVar | rs373478202 |
Map | rs373478202 |
PheGenI | rs373478202 |
Biobank | rs373478202 |
1000 genomes | rs373478202 |
hgdp | rs373478202 |
ensembl | rs373478202 |
geneview | rs373478202 |
scholar | rs373478202 |
rs373478202 | |
pharmgkb | rs373478202 |
gwascentral | rs373478202 |
openSNP | rs373478202 |
23andMe | rs373478202 |
SNPshot | rs373478202 |
SNPdbe | rs373478202 |
MSV3d | rs373478202 |
GWAS Ctlg | rs373478202 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373478202(A;A) rs373478202(C;C) rs373478202(T;T) |
Alt | rs373478202(A;A) rs373478202(C;C) rs373478202(T;T) |
Reference | Rs373478202(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | B9D1 |
CLNDBN | Joubert syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19251153G>T |
CLNSRC | |
CLNACC | RCV000201768.1, |