rs104893916
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893916(G;T) |
Make rs104893916(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149981626 |
Gene | SLC26A2 |
is a | snp |
is | mentioned by |
dbSNP | rs104893916 |
dbSNP (classic) | rs104893916 |
ClinGen | rs104893916 |
ebi | rs104893916 |
HLI | rs104893916 |
Exac | rs104893916 |
Gnomad | rs104893916 |
Varsome | rs104893916 |
LitVar | rs104893916 |
Map | rs104893916 |
PheGenI | rs104893916 |
Biobank | rs104893916 |
1000 genomes | rs104893916 |
hgdp | rs104893916 |
ensembl | rs104893916 |
geneview | rs104893916 |
scholar | rs104893916 |
rs104893916 | |
pharmgkb | rs104893916 |
gwascentral | rs104893916 |
openSNP | rs104893916 |
23andMe | rs104893916 |
SNPshot | rs104893916 |
SNPdbe | rs104893916 |
MSV3d | rs104893916 |
GWAS Ctlg | rs104893916 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893916(T;T) |
Alt | rs104893916(T;T) |
Reference | Rs104893916(G;G) |
Significance | Pathogenic |
Disease | Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4 |
Variation | info |
Gene | SLC26A2 |
CLNDBN | Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4 |
Reversed | 0 |
HGVS | NC_000005.9:g.149361189G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023570.3, RCV000055761.1, RCV000169017.1, |