rs786200946

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TAAG)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(AAGT;AAGT)	0	common in clinvar

Make rs786200946(-;-)

Make rs786200946(TAAG;TAAG)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

188997755

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs786200946
dbSNP (classic)	rs786200946
ClinGen	rs786200946
ebi	rs786200946
HLI	rs786200946
Exac	rs786200946
Gnomad	rs786200946
Varsome	rs786200946
LitVar	rs786200946
Map	rs786200946
PheGenI	rs786200946
Biobank	rs786200946
1000 genomes	rs786200946
hgdp	rs786200946
ensembl	rs786200946
geneview	rs786200946
scholar	rs786200946
google	rs786200946
pharmgkb	rs786200946
gwascentral	rs786200946
openSNP	rs786200946
23andMe	rs786200946
SNPshot	rs786200946
SNPdbe	rs786200946
MSV3d	rs786200946
GWAS Ctlg	rs786200946

Max Magnitude

6.5

ClinVar
Risk	rs786200946(-;-)
Alt	rs786200946(-;-)
Reference	Rs786200946(AAGT;AAGT)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189862481_189862484delTAAG
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087595.1,