rs727503992
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AGGGCATTGTTTTTCAACATCCA;AGGGCATTGTTTTTCAACATCCA) | 0 | common in clinvar |
| (CCAAGGGCATTGTTTTTCAACAT;CCAAGGGCATTGTTTTTCAACAT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs727503992(-;-) |
| Make rs727503992(-;AGGGCATTGTTTTTCAACATCCA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 129315543 |
| Gene | LAMA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727503992 |
| dbSNP (classic) | rs727503992 |
| ClinGen | rs727503992 |
| ebi | rs727503992 |
| HLI | rs727503992 |
| Exac | rs727503992 |
| Gnomad | rs727503992 |
| Varsome | rs727503992 |
| LitVar | rs727503992 |
| Map | rs727503992 |
| PheGenI | rs727503992 |
| Biobank | rs727503992 |
| 1000 genomes | rs727503992 |
| hgdp | rs727503992 |
| ensembl | rs727503992 |
| geneview | rs727503992 |
| scholar | rs727503992 |
| rs727503992 | |
| pharmgkb | rs727503992 |
| gwascentral | rs727503992 |
| openSNP | rs727503992 |
| 23andMe | rs727503992 |
| SNPshot | rs727503992 |
| SNPdbe | rs727503992 |
| MSV3d | rs727503992 |
| GWAS Ctlg | rs727503992 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727503992(-;-) Rs727503992(CCAAGGGCATTGTTTTTCAACAT;CCAAGGGCATTGTTTTTCAACAT) |
| Alt | rs727503992(-;-) Rs727503992(CCAAGGGCATTGTTTTTCAACAT;CCAAGGGCATTGTTTTTCAACAT) |
| Reference | Rs727503992(AGGGCATTGTTTTTCAACATCCA;AGGGCATTGTTTTTCAACATCCA) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | LAMA2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.129636688_129636710delAGGGCATTGTTTTTCAACATCCA |
| CLNSRC | |
| CLNACC | RCV000153435.2, |
