rs793888524
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs793888524(-;G) |
Make rs793888524(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 142405704 |
Gene | ADGRG6 |
is a | snp |
is | mentioned by |
dbSNP | rs793888524 |
dbSNP (classic) | rs793888524 |
ClinGen | rs793888524 |
ebi | rs793888524 |
HLI | rs793888524 |
Exac | rs793888524 |
Gnomad | rs793888524 |
Varsome | rs793888524 |
LitVar | rs793888524 |
Map | rs793888524 |
PheGenI | rs793888524 |
Biobank | rs793888524 |
1000 genomes | rs793888524 |
hgdp | rs793888524 |
ensembl | rs793888524 |
geneview | rs793888524 |
scholar | rs793888524 |
rs793888524 | |
pharmgkb | rs793888524 |
gwascentral | rs793888524 |
openSNP | rs793888524 |
23andMe | rs793888524 |
SNPshot | rs793888524 |
SNPdbe | rs793888524 |
MSV3d | rs793888524 |
GWAS Ctlg | rs793888524 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs793888524(G;G) |
Alt | rs793888524(G;G) |
Reference | Rs793888524(-;-) |
Significance | Pathogenic |
Disease | Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9 |
Variation | info |
Gene | GPR126 ADGRG6 |
CLNDBN | Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9 |
Reversed | 0 |
HGVS | NC_000006.11:g.142726841dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172978.1, RCV000186599.3, |