rs786200942

Orientation

minus

Stabilized

minus

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

Make rs786200942(-;-)

Make rs786200942(-;GGCCAGCAT)

Make rs786200942(GGCCAGCAT;GGCCAGCAT)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

1232693

Gene	B3GALT6, SDF4

is a	snp
is	mentioned by
dbSNP	rs786200942
dbSNP (classic)	rs786200942
ClinGen	rs786200942
ebi	rs786200942
HLI	rs786200942
Exac	rs786200942
Gnomad	rs786200942
Varsome	rs786200942
LitVar	rs786200942
Map	rs786200942
PheGenI	rs786200942
Biobank	rs786200942
1000 genomes	rs786200942
hgdp	rs786200942
ensembl	rs786200942
geneview	rs786200942
scholar	rs786200942
google	rs786200942
pharmgkb	rs786200942
gwascentral	rs786200942
openSNP	rs786200942
23andMe	rs786200942
SNPshot	rs786200942
SNPdbe	rs786200942
MSV3d	rs786200942
GWAS Ctlg	rs786200942

Max Magnitude

0

ClinVar
Risk	rs786200942(-;-)
Alt	rs786200942(-;-)
Reference	Rs786200942(TGGCCAGCA;TGGCCAGCA)
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.1168073_1168081delATGCTGGCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054400.4,