rs770612890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs770612890(-;-) |
Make rs770612890(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 20223418 |
Gene | GJB6 |
is a | snp |
is | mentioned by |
dbSNP | rs770612890 |
dbSNP (classic) | rs770612890 |
ClinGen | rs770612890 |
ebi | rs770612890 |
HLI | rs770612890 |
Exac | rs770612890 |
Gnomad | rs770612890 |
Varsome | rs770612890 |
LitVar | rs770612890 |
Map | rs770612890 |
PheGenI | rs770612890 |
Biobank | rs770612890 |
1000 genomes | rs770612890 |
hgdp | rs770612890 |
ensembl | rs770612890 |
geneview | rs770612890 |
scholar | rs770612890 |
rs770612890 | |
pharmgkb | rs770612890 |
gwascentral | rs770612890 |
openSNP | rs770612890 |
23andMe | rs770612890 |
SNPshot | rs770612890 |
SNPdbe | rs770612890 |
MSV3d | rs770612890 |
GWAS Ctlg | rs770612890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770612890(-;-) |
Alt | rs770612890(-;-) |
Reference | Rs770612890(C;C) |
Significance | Probable-Pathogenic |
Disease | GJB6-related disorders Hidrotic ectodermal dysplasia syndrome not provided |
Variation | info |
Gene | GJB6 |
CLNDBN | GJB6-related disorders Hidrotic ectodermal dysplasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.20797557delC |
CLNSRC | |
CLNACC | RCV000354367.1, RCV000409500.1, RCV000440483.1, |