rs150022116
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs150022116(G;T) |
Make rs150022116(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 56956799 |
Gene | C8B |
is a | snp |
is | mentioned by |
dbSNP | rs150022116 |
dbSNP (classic) | rs150022116 |
ClinGen | rs150022116 |
ebi | rs150022116 |
HLI | rs150022116 |
Exac | rs150022116 |
Gnomad | rs150022116 |
Varsome | rs150022116 |
LitVar | rs150022116 |
Map | rs150022116 |
PheGenI | rs150022116 |
Biobank | rs150022116 |
1000 genomes | rs150022116 |
hgdp | rs150022116 |
ensembl | rs150022116 |
geneview | rs150022116 |
scholar | rs150022116 |
rs150022116 | |
pharmgkb | rs150022116 |
gwascentral | rs150022116 |
openSNP | rs150022116 |
23andMe | rs150022116 |
SNPshot | rs150022116 |
SNPdbe | rs150022116 |
MSV3d | rs150022116 |
GWAS Ctlg | rs150022116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150022116(A;A) rs150022116(T;T) |
Alt | rs150022116(A;A) rs150022116(T;T) |
Reference | Rs150022116(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.57422472G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029238.27, |