rs749355583
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749355583(C;G) |
Make rs749355583(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 142309560 |
Gene | ADGRG6 |
is a | snp |
is | mentioned by |
dbSNP | rs749355583 |
dbSNP (classic) | rs749355583 |
ClinGen | rs749355583 |
ebi | rs749355583 |
HLI | rs749355583 |
Exac | rs749355583 |
Gnomad | rs749355583 |
Varsome | rs749355583 |
LitVar | rs749355583 |
Map | rs749355583 |
PheGenI | rs749355583 |
Biobank | rs749355583 |
1000 genomes | rs749355583 |
hgdp | rs749355583 |
ensembl | rs749355583 |
geneview | rs749355583 |
scholar | rs749355583 |
rs749355583 | |
pharmgkb | rs749355583 |
gwascentral | rs749355583 |
openSNP | rs749355583 |
23andMe | rs749355583 |
SNPshot | rs749355583 |
SNPdbe | rs749355583 |
MSV3d | rs749355583 |
GWAS Ctlg | rs749355583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749355583(G;G) rs749355583(T;T) |
Alt | rs749355583(G;G) rs749355583(T;T) |
Reference | Rs749355583(C;C) |
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.142630697C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172977.1, RCV000186598.3, |