rs121908257

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121908257(C;C)

Make rs121908257(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40471851

Gene

CHST14

is a	snp
is	mentioned by
dbSNP	rs121908257
dbSNP (classic)	rs121908257
ClinGen	rs121908257
ebi	rs121908257
HLI	rs121908257
Exac	rs121908257
Gnomad	rs121908257
Varsome	rs121908257
LitVar	rs121908257
Map	rs121908257
PheGenI	rs121908257
Biobank	rs121908257
1000 genomes	rs121908257
hgdp	rs121908257
ensembl	rs121908257
geneview	rs121908257
scholar	rs121908257
google	rs121908257
pharmgkb	rs121908257
gwascentral	rs121908257
openSNP	rs121908257
23andMe	rs121908257
SNPshot	rs121908257
SNPdbe	rs121908257
MSV3d	rs121908257
GWAS Ctlg	rs121908257

Max Magnitude

0

OMIM	608429
Desc
Variant	0002
Related	also

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 (protein) UniProtKB (variants)
CLNACC	RCV000002427.8,

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