Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908257(C;C)
Make rs121908257(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40471851
GeneCHST14
is asnp
is mentioned by
dbSNPrs121908257
ebirs121908257
HLIrs121908257
Exacrs121908257
Varsomers121908257
Maprs121908257
PheGenIrs121908257
hapmaprs121908257
1000 genomesrs121908257
hgdprs121908257
ensemblrs121908257
gopubmedrs121908257
geneviewrs121908257
scholarrs121908257
googlers121908257
pharmgkbrs121908257
gwascentralrs121908257
openSNPrs121908257
23andMers121908257
23andMe allrs121908257
SNP Nexus

SNPshotrs121908257
SNPdbers121908257
MSV3drs121908257
GWAS Ctlgrs121908257
Max Magnitude0
OMIM608429
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908257(C;C)
Alt rs121908257(C;C)
Reference rs121908257(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene CHST14
CLNDBN Ehlers-Danlos syndrome, musculocontractural type
Reversed 0
HGVS NC_000015.9:g.40764050G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002427.5,


[PMID 20004762OA-icon.png] Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.