rs530251354
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs530251354(C;T) |
Make rs530251354(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 42627617 |
Gene | CYB5R3 |
is a | snp |
is | mentioned by |
dbSNP | rs530251354 |
dbSNP (classic) | rs530251354 |
ClinGen | rs530251354 |
ebi | rs530251354 |
HLI | rs530251354 |
Exac | rs530251354 |
Gnomad | rs530251354 |
Varsome | rs530251354 |
LitVar | rs530251354 |
Map | rs530251354 |
PheGenI | rs530251354 |
Biobank | rs530251354 |
1000 genomes | rs530251354 |
hgdp | rs530251354 |
ensembl | rs530251354 |
geneview | rs530251354 |
scholar | rs530251354 |
rs530251354 | |
pharmgkb | rs530251354 |
gwascentral | rs530251354 |
openSNP | rs530251354 |
23andMe | rs530251354 |
SNPshot | rs530251354 |
SNPdbe | rs530251354 |
MSV3d | rs530251354 |
GWAS Ctlg | rs530251354 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs530251354(T;T) |
Alt | rs530251354(T;T) |
Reference | Rs530251354(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CYB5R3 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.43023623C>G |
CLNSRC | |
CLNACC | RCV000492877.1, |