rs267606731

Orientation

plus

Stabilized

plus

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

Make rs267606731(C;C)

Make rs267606731(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40472079

Gene

CHST14

is a	snp
is	mentioned by
dbSNP	rs267606731
dbSNP (classic)	rs267606731
ClinGen	rs267606731
ebi	rs267606731
HLI	rs267606731
Exac	rs267606731
Gnomad	rs267606731
Varsome	rs267606731
LitVar	rs267606731
Map	rs267606731
PheGenI	rs267606731
Biobank	rs267606731
1000 genomes	rs267606731
hgdp	rs267606731
ensembl	rs267606731
geneview	rs267606731
scholar	rs267606731
google	rs267606731
pharmgkb	rs267606731
gwascentral	rs267606731
openSNP	rs267606731
23andMe	rs267606731
SNPshot	rs267606731
SNPdbe	rs267606731
MSV3d	rs267606731
GWAS Ctlg	rs267606731

Max Magnitude

0

ClinVar
Risk	rs267606731(C;C)
Alt	rs267606731(C;C)
Reference	Rs267606731(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.40764278G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002432.6,