rs121913052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121913052(C;C) |
Make rs121913052(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 196715679 |
Gene | CFH |
is a | snp |
is | mentioned by |
dbSNP | rs121913052 |
dbSNP (classic) | rs121913052 |
ClinGen | rs121913052 |
ebi | rs121913052 |
HLI | rs121913052 |
Exac | rs121913052 |
Gnomad | rs121913052 |
Varsome | rs121913052 |
LitVar | rs121913052 |
Map | rs121913052 |
PheGenI | rs121913052 |
Biobank | rs121913052 |
1000 genomes | rs121913052 |
hgdp | rs121913052 |
ensembl | rs121913052 |
geneview | rs121913052 |
scholar | rs121913052 |
rs121913052 | |
pharmgkb | rs121913052 |
gwascentral | rs121913052 |
openSNP | rs121913052 |
23andMe | rs121913052 |
SNPshot | rs121913052 |
SNPdbe | rs121913052 |
MSV3d | rs121913052 |
GWAS Ctlg | rs121913052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913052(C;C) |
Alt | rs121913052(C;C) |
Reference | Rs121913052(T;T) |
Significance | Pathogenic |
Disease | Factor H deficiency |
Variation | info |
Gene | CFH |
CLNDBN | Factor H deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.196684809T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018009.29, |