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rs121908258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908258(A;G)
Make rs121908258(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40472091
GeneCHST14
is asnp
is mentioned by
dbSNPrs121908258
ebirs121908258
HLIrs121908258
Exacrs121908258
Varsomers121908258
Maprs121908258
PheGenIrs121908258
hapmaprs121908258
1000 genomesrs121908258
hgdprs121908258
ensemblrs121908258
gopubmedrs121908258
geneviewrs121908258
scholarrs121908258
googlers121908258
pharmgkbrs121908258
gwascentralrs121908258
openSNPrs121908258
23andMers121908258
23andMe allrs121908258
SNP Nexus

SNPshotrs121908258
SNPdbers121908258
MSV3drs121908258
GWAS Ctlgrs121908258
Max Magnitude0
OMIM608429
Desc
Variant0004
Relatedalso
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 (variants)
CLNACC RCV000002429.4,


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