rs387906616
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs387906616(C;T) | 
| Make rs387906616(T;T) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 6 | 
| Position | 121446878 | 
| Gene | GJA1 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs387906616 | 
| dbSNP (classic) | rs387906616 | 
| ClinGen | rs387906616 | 
| ebi | rs387906616 | 
| HLI | rs387906616 | 
| Exac | rs387906616 | 
| Gnomad | rs387906616 | 
| Varsome | rs387906616 | 
| LitVar | rs387906616 | 
| Map | rs387906616 | 
| PheGenI | rs387906616 | 
| Biobank | rs387906616 | 
| 1000 genomes | rs387906616 | 
| hgdp | rs387906616 | 
| ensembl | rs387906616 | 
| geneview | rs387906616 | 
| scholar | rs387906616 | 
| rs387906616 | |
| pharmgkb | rs387906616 | 
| gwascentral | rs387906616 | 
| openSNP | rs387906616 | 
| 23andMe | rs387906616 | 
| SNPshot | rs387906616 | 
| SNPdbe | rs387906616 | 
| MSV3d | rs387906616 | 
| GWAS Ctlg | rs387906616 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs387906616(T;T) | 
| Alt | rs387906616(T;T) | 
| Reference | Rs387906616(C;C) | 
| Significance | Pathogenic | 
| Disease | Oculodentodigital dysplasia | 
| Variation | info | 
| Gene | GJA1 | 
| CLNDBN | Oculodentodigital dysplasia | 
| Reversed | 0 | 
| HGVS | NC_000006.11:g.121768024C>T | 
| CLNSRC | OMIM Allelic Variant | 
| CLNACC | RCV000022517.28, | 


