rs146187042
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146187042(A;A) |
Make rs146187042(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 56956889 |
Gene | C8B |
is a | snp |
is | mentioned by |
dbSNP | rs146187042 |
dbSNP (classic) | rs146187042 |
ClinGen | rs146187042 |
ebi | rs146187042 |
HLI | rs146187042 |
Exac | rs146187042 |
Gnomad | rs146187042 |
Varsome | rs146187042 |
LitVar | rs146187042 |
Map | rs146187042 |
PheGenI | rs146187042 |
Biobank | rs146187042 |
1000 genomes | rs146187042 |
hgdp | rs146187042 |
ensembl | rs146187042 |
geneview | rs146187042 |
scholar | rs146187042 |
rs146187042 | |
pharmgkb | rs146187042 |
gwascentral | rs146187042 |
openSNP | rs146187042 |
23andMe | rs146187042 |
SNPshot | rs146187042 |
SNPdbe | rs146187042 |
MSV3d | rs146187042 |
GWAS Ctlg | rs146187042 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146187042(A;A) |
Alt | rs146187042(A;A) |
Reference | Rs146187042(G;G) |
Significance | Pathogenic |
Disease | Complement component 8 deficiency type 2 |
Variation | info |
Gene | C8B |
CLNDBN | Complement component 8 deficiency type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.57422562G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029239.27, |