rs267606729

Orientation

plus

Stabilized

plus

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

Make rs267606729(C;T)

Make rs267606729(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40472055

Gene

CHST14

is a	snp
is	mentioned by
dbSNP	rs267606729
dbSNP (classic)	rs267606729
ClinGen	rs267606729
ebi	rs267606729
HLI	rs267606729
Exac	rs267606729
Gnomad	rs267606729
Varsome	rs267606729
LitVar	rs267606729
Map	rs267606729
PheGenI	rs267606729
Biobank	rs267606729
1000 genomes	rs267606729
hgdp	rs267606729
ensembl	rs267606729
geneview	rs267606729
scholar	rs267606729
google	rs267606729
pharmgkb	rs267606729
gwascentral	rs267606729
openSNP	rs267606729
23andMe	rs267606729
SNPshot	rs267606729
SNPdbe	rs267606729
MSV3d	rs267606729
GWAS Ctlg	rs267606729

Max Magnitude

0

ClinVar
Risk	rs267606729(T;T)
Alt	rs267606729(T;T)
Reference	Rs267606729(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	CHST14
CLNDBN	Ehlers-Danlos syndrome, musculocontractural type
Reversed	0
HGVS	NC_000015.9:g.40764254C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002430.6,