rs779612399
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs779612399(G;G) |
Make rs779612399(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 6097592 |
Gene | FERMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs779612399 |
dbSNP (classic) | rs779612399 |
ClinGen | rs779612399 |
ebi | rs779612399 |
HLI | rs779612399 |
Exac | rs779612399 |
Gnomad | rs779612399 |
Varsome | rs779612399 |
LitVar | rs779612399 |
Map | rs779612399 |
PheGenI | rs779612399 |
Biobank | rs779612399 |
1000 genomes | rs779612399 |
hgdp | rs779612399 |
ensembl | rs779612399 |
geneview | rs779612399 |
scholar | rs779612399 |
rs779612399 | |
pharmgkb | rs779612399 |
gwascentral | rs779612399 |
openSNP | rs779612399 |
23andMe | rs779612399 |
SNPshot | rs779612399 |
SNPdbe | rs779612399 |
MSV3d | rs779612399 |
GWAS Ctlg | rs779612399 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779612399(C;C) rs779612399(G;G) |
Alt | rs779612399(C;C) rs779612399(G;G) |
Reference | Rs779612399(T;T) |
Significance | Pathogenic |
Disease | Kindler's syndrome |
Variation | info |
Gene | FERMT1 |
CLNDBN | Kindler's syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.6078239T>C |
CLNSRC | |
CLNACC | RCV000209904.1, |