rs104893915
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier of one allele associated with several bone disorders |
(T;T) | 7 | Several bone disorders associated with this genotype |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149980428 |
Gene | SLC26A2 |
is a | snp |
is | mentioned by |
dbSNP | rs104893915 |
dbSNP (classic) | rs104893915 |
ClinGen | rs104893915 |
ebi | rs104893915 |
HLI | rs104893915 |
Exac | rs104893915 |
Gnomad | rs104893915 |
Varsome | rs104893915 |
LitVar | rs104893915 |
Map | rs104893915 |
PheGenI | rs104893915 |
Biobank | rs104893915 |
1000 genomes | rs104893915 |
hgdp | rs104893915 |
ensembl | rs104893915 |
geneview | rs104893915 |
scholar | rs104893915 |
rs104893915 | |
pharmgkb | rs104893915 |
gwascentral | rs104893915 |
openSNP | rs104893915 |
23andMe | rs104893915 |
SNPshot | rs104893915 |
SNPdbe | rs104893915 |
MSV3d | rs104893915 |
GWAS Ctlg | rs104893915 |
GMAF | 0.0004591 |
Max Magnitude | 7 |
rs104893915, also known as c.835C>T, p.Arg279Trp and R279W, is a mutation in the SLC26A2 gene on chromosome 5.
The rare rs104893915(T) variant, when inherited recessively or as a compound heterozygote, has been considered a causative mutation for several conditions, including:
- Atelosteogenesis type 2
- Diastrophic dysplasia
- Multiple epiphyseal dysplasia, type 4
See OMIM 606718.0002 for more information.
ClinVar | |
---|---|
Risk | Rs104893915(T;T) |
Alt | Rs104893915(T;T) |
Reference | Rs104893915(C;C) |
Significance | Pathogenic |
Disease | Atelosteogenesis type 2 Diastrophic dysplasia Multiple epiphyseal dysplasia 4 not provided SLC26A2-Related Disorders |
Variation | info |
Gene | SLC26A2 |
CLNDBN | Atelosteogenesis type 2 Diastrophic dysplasia Multiple epiphyseal dysplasia 4 not provided SLC26A2-Related Disorders |
Reversed | 0 |
HGVS | NC_000005.9:g.149359991C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004305.4, RCV000004306.6, RCV000004307.5, RCV000266165.1, RCV000275762.1, |