rs121913062
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913062(G;T) |
Make rs121913062(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 196743552 |
Gene | CFH |
is a | snp |
is | mentioned by |
dbSNP | rs121913062 |
dbSNP (classic) | rs121913062 |
ClinGen | rs121913062 |
ebi | rs121913062 |
HLI | rs121913062 |
Exac | rs121913062 |
Gnomad | rs121913062 |
Varsome | rs121913062 |
LitVar | rs121913062 |
Map | rs121913062 |
PheGenI | rs121913062 |
Biobank | rs121913062 |
1000 genomes | rs121913062 |
hgdp | rs121913062 |
ensembl | rs121913062 |
geneview | rs121913062 |
scholar | rs121913062 |
rs121913062 | |
pharmgkb | rs121913062 |
gwascentral | rs121913062 |
openSNP | rs121913062 |
23andMe | rs121913062 |
SNPshot | rs121913062 |
SNPdbe | rs121913062 |
MSV3d | rs121913062 |
GWAS Ctlg | rs121913062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913062(T;T) |
Alt | rs121913062(T;T) |
Reference | Rs121913062(G;G) |
Significance | Pathogenic |
Disease | Basal laminar drusen |
Variation | info |
Gene | CFH |
CLNDBN | Basal laminar drusen |
Reversed | 0 |
HGVS | NC_000001.10:g.196712682G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018029.29, |