rs782488388
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(C;C) | 0 | common in clinvar |
Make rs782488388(-;AGACGT) |
Make rs782488388(AGACGT;AGACGT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133352075 |
Gene | SURF1 |
is a | snp |
is | mentioned by |
dbSNP | rs782488388 |
dbSNP (classic) | rs782488388 |
ClinGen | rs782488388 |
ebi | rs782488388 |
HLI | rs782488388 |
Exac | rs782488388 |
Gnomad | rs782488388 |
Varsome | rs782488388 |
LitVar | rs782488388 |
Map | rs782488388 |
PheGenI | rs782488388 |
Biobank | rs782488388 |
1000 genomes | rs782488388 |
hgdp | rs782488388 |
ensembl | rs782488388 |
geneview | rs782488388 |
scholar | rs782488388 |
rs782488388 | |
pharmgkb | rs782488388 |
gwascentral | rs782488388 |
openSNP | rs782488388 |
23andMe | rs782488388 |
SNPshot | rs782488388 |
SNPdbe | rs782488388 |
MSV3d | rs782488388 |
GWAS Ctlg | rs782488388 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782488388(T;T) rs782488388(TGCAGA;TGCAGA) |
Alt | rs782488388(T;T) rs782488388(TGCAGA;TGCAGA) |
Reference | Rs782488388(-;-) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SURF1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.136218931_136218936dupTGCAGA |
CLNSRC | |
CLNACC | RCV000196024.1, |