rs121913059
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
Make rs121913059(C;T) |
Make rs121913059(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 196747245 |
Gene | CFH |
is a | snp |
is | mentioned by |
dbSNP | rs121913059 |
dbSNP (classic) | rs121913059 |
ClinGen | rs121913059 |
ebi | rs121913059 |
HLI | rs121913059 |
Exac | rs121913059 |
Gnomad | rs121913059 |
Varsome | rs121913059 |
LitVar | rs121913059 |
Map | rs121913059 |
PheGenI | rs121913059 |
Biobank | rs121913059 |
1000 genomes | rs121913059 |
hgdp | rs121913059 |
ensembl | rs121913059 |
geneview | rs121913059 |
scholar | rs121913059 |
rs121913059 | |
pharmgkb | rs121913059 |
gwascentral | rs121913059 |
openSNP | rs121913059 |
23andMe | rs121913059 |
SNPshot | rs121913059 |
SNPdbe | rs121913059 |
MSV3d | rs121913059 |
GWAS Ctlg | rs121913059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913059(T;T) |
Alt | rs121913059(T;T) |
Reference | Rs121913059(C;C) |
Significance | Other |
Disease | Factor H deficiency Atypical hemolytic-uremic syndrome 1 Age-related macular degeneration 4 |
Variation | info |
Gene | CFH |
CLNDBN | Factor H deficiency Atypical hemolytic-uremic syndrome 1 Age-related macular degeneration 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.196716375C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018025.28, RCV000018026.7, RCV000022540.7, |
[PMID 26215151] Complement factor H R1210C among Japanese patients with age-related macular degeneration