rs386833492
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs386833492(C;C) |
| Make rs386833492(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 149960981 |
| Gene | SLC26A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833492 |
| dbSNP (classic) | rs386833492 |
| ClinGen | rs386833492 |
| ebi | rs386833492 |
| HLI | rs386833492 |
| Exac | rs386833492 |
| Gnomad | rs386833492 |
| Varsome | rs386833492 |
| LitVar | rs386833492 |
| Map | rs386833492 |
| PheGenI | rs386833492 |
| Biobank | rs386833492 |
| 1000 genomes | rs386833492 |
| hgdp | rs386833492 |
| ensembl | rs386833492 |
| geneview | rs386833492 |
| scholar | rs386833492 |
| rs386833492 | |
| pharmgkb | rs386833492 |
| gwascentral | rs386833492 |
| openSNP | rs386833492 |
| 23andMe | rs386833492 |
| SNPshot | rs386833492 |
| SNPdbe | rs386833492 |
| MSV3d | rs386833492 |
| GWAS Ctlg | rs386833492 |
| 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 | rs386833492(C;C) |
| Alt | rs386833492(C;C) |
| Reference | Rs386833492(T;T) |
| Significance | Pathogenic |
| Disease | Diastrophic dysplasia |
| Variation | info |
| Gene | SLC26A2 |
| CLNDBN | Diastrophic dysplasia |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149340544T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004312.4, |
[PMID 10482955] Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
[PMID 21077202] Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
