rs121908258
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908258(A;G) |
Make rs121908258(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40472091 |
Gene | CHST14 |
is a | snp |
is | mentioned by |
dbSNP | rs121908258 |
dbSNP (classic) | rs121908258 |
ClinGen | rs121908258 |
ebi | rs121908258 |
HLI | rs121908258 |
Exac | rs121908258 |
Gnomad | rs121908258 |
Varsome | rs121908258 |
LitVar | rs121908258 |
Map | rs121908258 |
PheGenI | rs121908258 |
Biobank | rs121908258 |
1000 genomes | rs121908258 |
hgdp | rs121908258 |
ensembl | rs121908258 |
geneview | rs121908258 |
scholar | rs121908258 |
rs121908258 | |
pharmgkb | rs121908258 |
gwascentral | rs121908258 |
openSNP | rs121908258 |
23andMe | rs121908258 |
SNPshot | rs121908258 |
SNPdbe | rs121908258 |
MSV3d | rs121908258 |
GWAS Ctlg | rs121908258 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908258(G;G) |
Alt | rs121908258(G;G) |
Reference | Rs121908258(A;A) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | CHST14 |
CLNDBN | Ehlers-Danlos syndrome, musculocontractural type |
Reversed | 0 |
HGVS | NC_000015.9:g.40764290A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000002429.7, |
[PMID 20004762] Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.