rs267606730

Orientation

plus

Stabilized

plus

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

Make rs267606730(A;T)

Make rs267606730(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40471418

Gene

CHST14

is a	snp
is	mentioned by
dbSNP	rs267606730
dbSNP (classic)	rs267606730
ClinGen	rs267606730
ebi	rs267606730
HLI	rs267606730
Exac	rs267606730
Gnomad	rs267606730
Varsome	rs267606730
LitVar	rs267606730
Map	rs267606730
PheGenI	rs267606730
Biobank	rs267606730
1000 genomes	rs267606730
hgdp	rs267606730
ensembl	rs267606730
geneview	rs267606730
scholar	rs267606730
google	rs267606730
pharmgkb	rs267606730
gwascentral	rs267606730
openSNP	rs267606730
23andMe	rs267606730
SNPshot	rs267606730
SNPdbe	rs267606730
MSV3d	rs267606730
GWAS Ctlg	rs267606730

Max Magnitude

0

ClinVar
Risk	rs267606730(T;T)
Alt	rs267606730(T;T)
Reference	Rs267606730(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.40763617A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002431.6,