rs377046630
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs377046630(C;T) |
Make rs377046630(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 78252452 |
Gene | FRAS1 |
is a | snp |
is | mentioned by |
dbSNP | rs377046630 |
dbSNP (classic) | rs377046630 |
ClinGen | rs377046630 |
ebi | rs377046630 |
HLI | rs377046630 |
Exac | rs377046630 |
Gnomad | rs377046630 |
Varsome | rs377046630 |
LitVar | rs377046630 |
Map | rs377046630 |
PheGenI | rs377046630 |
Biobank | rs377046630 |
1000 genomes | rs377046630 |
hgdp | rs377046630 |
ensembl | rs377046630 |
geneview | rs377046630 |
scholar | rs377046630 |
rs377046630 | |
pharmgkb | rs377046630 |
gwascentral | rs377046630 |
openSNP | rs377046630 |
23andMe | rs377046630 |
SNPshot | rs377046630 |
SNPdbe | rs377046630 |
MSV3d | rs377046630 |
GWAS Ctlg | rs377046630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377046630(T;T) |
Alt | rs377046630(T;T) |
Reference | Rs377046630(C;C) |
Significance | Pathogenic |
Disease | Cryptophthalmos syndrome |
Variation | info |
Gene | FRAS1 |
CLNDBN | Cryptophthalmos syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.79173606C>T |
CLNSRC | |
CLNACC | RCV000178998.1, |