rs121908258

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
google	rs121908258
pharmgkb	rs121908258
gwascentral	rs121908258
openSNP	rs121908258
23andMe	rs121908258
SNPshot	rs121908258
SNPdbe	rs121908258
MSV3d	rs121908258
GWAS Ctlg	rs121908258

Max Magnitude

0

OMIM	608429
Desc
Variant	0004
Related	also

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.