rs1060500200

Orientation

plus

Stabilized

plus

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

Make rs1060500200(-;-)

Make rs1060500200(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

188984761

Gene	COL3A1, LOC105373791

is a	snp
is	mentioned by
dbSNP	rs1060500200
dbSNP (classic)	rs1060500200
ClinGen	rs1060500200
ebi	rs1060500200
HLI	rs1060500200
Exac	rs1060500200
Gnomad	rs1060500200
Varsome	rs1060500200
LitVar	rs1060500200
Map	rs1060500200
PheGenI	rs1060500200
Biobank	rs1060500200
1000 genomes	rs1060500200
hgdp	rs1060500200
ensembl	rs1060500200
geneview	rs1060500200
scholar	rs1060500200
google	rs1060500200
pharmgkb	rs1060500200
gwascentral	rs1060500200
openSNP	rs1060500200
23andMe	rs1060500200
SNPshot	rs1060500200
SNPdbe	rs1060500200
MSV3d	rs1060500200
GWAS Ctlg	rs1060500200

Max Magnitude

0

ClinVar
Risk	rs1060500200(-;-)
Alt	rs1060500200(-;-)
Reference	Rs1060500200(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189849487delT
CLNSRC
CLNACC	RCV000474877.1,