rs797044696
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044696(-;T) |
Make rs797044696(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 78379803 |
Gene | FRAS1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044696 |
dbSNP (classic) | rs797044696 |
ClinGen | rs797044696 |
ebi | rs797044696 |
HLI | rs797044696 |
Exac | rs797044696 |
Gnomad | rs797044696 |
Varsome | rs797044696 |
LitVar | rs797044696 |
Map | rs797044696 |
PheGenI | rs797044696 |
Biobank | rs797044696 |
1000 genomes | rs797044696 |
hgdp | rs797044696 |
ensembl | rs797044696 |
geneview | rs797044696 |
scholar | rs797044696 |
rs797044696 | |
pharmgkb | rs797044696 |
gwascentral | rs797044696 |
openSNP | rs797044696 |
23andMe | rs797044696 |
SNPshot | rs797044696 |
SNPdbe | rs797044696 |
MSV3d | rs797044696 |
GWAS Ctlg | rs797044696 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044696(T;T) |
Alt | rs797044696(T;T) |
Reference | Rs797044696(-;-) |
Significance | Pathogenic |
Disease | Cryptophthalmos syndrome |
Variation | info |
Gene | FRAS1 |
CLNDBN | Cryptophthalmos syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.79300957dupT |
CLNSRC | |
CLNACC | RCV000176767.1, |