rs757920190
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs757920190(C;T) |
Make rs757920190(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 43060477 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs757920190 |
dbSNP (classic) | rs757920190 |
ClinGen | rs757920190 |
ebi | rs757920190 |
HLI | rs757920190 |
Exac | rs757920190 |
Gnomad | rs757920190 |
Varsome | rs757920190 |
LitVar | rs757920190 |
Map | rs757920190 |
PheGenI | rs757920190 |
Biobank | rs757920190 |
1000 genomes | rs757920190 |
hgdp | rs757920190 |
ensembl | rs757920190 |
geneview | rs757920190 |
scholar | rs757920190 |
rs757920190 | |
pharmgkb | rs757920190 |
gwascentral | rs757920190 |
openSNP | rs757920190 |
23andMe | rs757920190 |
SNPshot | rs757920190 |
SNPdbe | rs757920190 |
MSV3d | rs757920190 |
GWAS Ctlg | rs757920190 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757920190(T;T) |
Alt | rs757920190(T;T) |
Reference | Rs757920190(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CBSL CBS |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.44480587C>T |
CLNSRC | |
CLNACC | RCV000482454.1, |