rs750294638
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs750294638(A;A) |
Make rs750294638(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 121447452 |
Gene | GJA1 |
is a | snp |
is | mentioned by |
dbSNP | rs750294638 |
dbSNP (classic) | rs750294638 |
ClinGen | rs750294638 |
ebi | rs750294638 |
HLI | rs750294638 |
Exac | rs750294638 |
Gnomad | rs750294638 |
Varsome | rs750294638 |
LitVar | rs750294638 |
Map | rs750294638 |
PheGenI | rs750294638 |
Biobank | rs750294638 |
1000 genomes | rs750294638 |
hgdp | rs750294638 |
ensembl | rs750294638 |
geneview | rs750294638 |
scholar | rs750294638 |
rs750294638 | |
pharmgkb | rs750294638 |
gwascentral | rs750294638 |
openSNP | rs750294638 |
23andMe | rs750294638 |
SNPshot | rs750294638 |
SNPdbe | rs750294638 |
MSV3d | rs750294638 |
GWAS Ctlg | rs750294638 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750294638(A;A) |
Alt | rs750294638(A;A) |
Reference | Rs750294638(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | GJA1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.121768598G>A |
CLNSRC | |
CLNACC | RCV000413018.1, |