rs371904655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs371904655(C;C) |
Make rs371904655(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 31317565 |
Gene | B3GLCT |
is a | snp |
is | mentioned by |
dbSNP | rs371904655 |
dbSNP (classic) | rs371904655 |
ClinGen | rs371904655 |
ebi | rs371904655 |
HLI | rs371904655 |
Exac | rs371904655 |
Gnomad | rs371904655 |
Varsome | rs371904655 |
LitVar | rs371904655 |
Map | rs371904655 |
PheGenI | rs371904655 |
Biobank | rs371904655 |
1000 genomes | rs371904655 |
hgdp | rs371904655 |
ensembl | rs371904655 |
geneview | rs371904655 |
scholar | rs371904655 |
rs371904655 | |
pharmgkb | rs371904655 |
gwascentral | rs371904655 |
openSNP | rs371904655 |
23andMe | rs371904655 |
SNPshot | rs371904655 |
SNPdbe | rs371904655 |
MSV3d | rs371904655 |
GWAS Ctlg | rs371904655 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371904655(A;A) rs371904655(C;C) |
Alt | rs371904655(A;A) rs371904655(C;C) |
Reference | Rs371904655(G;G) |
Significance | Pathogenic |
Disease | Peters plus syndrome |
Variation | info |
Gene | B3GLCT |
CLNDBN | Peters plus syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.31891702G>A |
CLNSRC | |
CLNACC | RCV000174622.1, |