rs786200941

Orientation

minus

Stabilized

minus

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

Make rs786200941(-;-)

Make rs786200941(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

1232866

Gene	B3GALT6, SDF4

is a	snp
is	mentioned by
dbSNP	rs786200941
dbSNP (classic)	rs786200941
ClinGen	rs786200941
ebi	rs786200941
HLI	rs786200941
Exac	rs786200941
Gnomad	rs786200941
Varsome	rs786200941
LitVar	rs786200941
Map	rs786200941
PheGenI	rs786200941
Biobank	rs786200941
1000 genomes	rs786200941
hgdp	rs786200941
ensembl	rs786200941
geneview	rs786200941
scholar	rs786200941
google	rs786200941
pharmgkb	rs786200941
gwascentral	rs786200941
openSNP	rs786200941
23andMe	rs786200941
SNPshot	rs786200941
SNPdbe	rs786200941
MSV3d	rs786200941
GWAS Ctlg	rs786200941

Max Magnitude

0

ClinVar
Risk	rs786200941(-;-)
Alt	rs786200941(-;-)
Reference	Rs786200941(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	B3GALT6 SDF4
CLNDBN	Ehlers-Danlos syndrome, progeroid type, 2
Reversed	1
HGVS	NC_000001.10:g.1168246delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054398.4,