rs41286844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41286844(A;A) |
Make rs41286844(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 56940965 |
Gene | C8B |
is a | snp |
is | mentioned by |
dbSNP | rs41286844 |
dbSNP (classic) | rs41286844 |
ClinGen | rs41286844 |
ebi | rs41286844 |
HLI | rs41286844 |
Exac | rs41286844 |
Gnomad | rs41286844 |
Varsome | rs41286844 |
LitVar | rs41286844 |
Map | rs41286844 |
PheGenI | rs41286844 |
Biobank | rs41286844 |
1000 genomes | rs41286844 |
hgdp | rs41286844 |
ensembl | rs41286844 |
geneview | rs41286844 |
scholar | rs41286844 |
rs41286844 | |
pharmgkb | rs41286844 |
gwascentral | rs41286844 |
openSNP | rs41286844 |
23andMe | rs41286844 |
SNPshot | rs41286844 |
SNPdbe | rs41286844 |
MSV3d | rs41286844 |
GWAS Ctlg | rs41286844 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41286844(A;A) |
Alt | rs41286844(A;A) |
Reference | Rs41286844(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.57406638G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018566.27, |