rs121913054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913054(G;T) |
Make rs121913054(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 196677613 |
Gene | CFH |
is a | snp |
is | mentioned by |
dbSNP | rs121913054 |
dbSNP (classic) | rs121913054 |
ClinGen | rs121913054 |
ebi | rs121913054 |
HLI | rs121913054 |
Exac | rs121913054 |
Gnomad | rs121913054 |
Varsome | rs121913054 |
LitVar | rs121913054 |
Map | rs121913054 |
PheGenI | rs121913054 |
Biobank | rs121913054 |
1000 genomes | rs121913054 |
hgdp | rs121913054 |
ensembl | rs121913054 |
geneview | rs121913054 |
scholar | rs121913054 |
rs121913054 | |
pharmgkb | rs121913054 |
gwascentral | rs121913054 |
openSNP | rs121913054 |
23andMe | rs121913054 |
SNPshot | rs121913054 |
SNPdbe | rs121913054 |
MSV3d | rs121913054 |
GWAS Ctlg | rs121913054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913054(A;A) rs121913054(T;T) |
Alt | rs121913054(A;A) rs121913054(T;T) |
Reference | Rs121913054(G;G) |
Significance | Pathogenic |
Disease | Factor H deficiency |
Variation | info |
Gene | CFH |
CLNDBN | Factor H deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.196646743G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018013.30, |