rs606231150
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs606231150(A;G) |
| Make rs606231150(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 156791137 |
| Gene | LMBR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231150 |
| dbSNP (classic) | rs606231150 |
| ClinGen | rs606231150 |
| ebi | rs606231150 |
| HLI | rs606231150 |
| Exac | rs606231150 |
| Gnomad | rs606231150 |
| Varsome | rs606231150 |
| LitVar | rs606231150 |
| Map | rs606231150 |
| PheGenI | rs606231150 |
| Biobank | rs606231150 |
| 1000 genomes | rs606231150 |
| hgdp | rs606231150 |
| ensembl | rs606231150 |
| geneview | rs606231150 |
| scholar | rs606231150 |
| rs606231150 | |
| pharmgkb | rs606231150 |
| gwascentral | rs606231150 |
| openSNP | rs606231150 |
| 23andMe | rs606231150 |
| SNPshot | rs606231150 |
| SNPdbe | rs606231150 |
| MSV3d | rs606231150 |
| GWAS Ctlg | rs606231150 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs606231150(G;G) |
| Alt | rs606231150(G;G) |
| Reference | Rs606231150(A;A) |
| Significance | Pathogenic |
| Disease | Polydactyly Triphalangeal thumb |
| Variation | info |
| Gene | LMBR1 |
| CLNDBN | Polydactyly, preaxial II Triphalangeal thumb |
| Reversed | 1 |
| HGVS | NC_000007.13:g.156583831T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005181.3, RCV000005182.3, |
