rs120074159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs120074159(C;G) |
Make rs120074159(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 78407804 |
Gene | FRAS1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074159 |
dbSNP (classic) | rs120074159 |
ClinGen | rs120074159 |
ebi | rs120074159 |
HLI | rs120074159 |
Exac | rs120074159 |
Gnomad | rs120074159 |
Varsome | rs120074159 |
LitVar | rs120074159 |
Map | rs120074159 |
PheGenI | rs120074159 |
Biobank | rs120074159 |
1000 genomes | rs120074159 |
hgdp | rs120074159 |
ensembl | rs120074159 |
geneview | rs120074159 |
scholar | rs120074159 |
rs120074159 | |
pharmgkb | rs120074159 |
gwascentral | rs120074159 |
openSNP | rs120074159 |
23andMe | rs120074159 |
SNPshot | rs120074159 |
SNPdbe | rs120074159 |
MSV3d | rs120074159 |
GWAS Ctlg | rs120074159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074159(G;G) |
Alt | rs120074159(G;G) |
Reference | Rs120074159(C;C) |
Significance | Pathogenic |
Disease | Cryptophthalmos syndrome |
Variation | info |
Gene | FRAS1 |
CLNDBN | Cryptophthalmos syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.79328958C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002947.2, |