rs1060500203

Orientation

plus

Stabilized

plus

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

Make rs1060500203(G;T)

Make rs1060500203(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

189007501

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs1060500203
dbSNP (classic)	rs1060500203
ClinGen	rs1060500203
ebi	rs1060500203
HLI	rs1060500203
Exac	rs1060500203
Gnomad	rs1060500203
Varsome	rs1060500203
LitVar	rs1060500203
Map	rs1060500203
PheGenI	rs1060500203
Biobank	rs1060500203
1000 genomes	rs1060500203
hgdp	rs1060500203
ensembl	rs1060500203
geneview	rs1060500203
scholar	rs1060500203
google	rs1060500203
pharmgkb	rs1060500203
gwascentral	rs1060500203
openSNP	rs1060500203
23andMe	rs1060500203
SNPshot	rs1060500203
SNPdbe	rs1060500203
MSV3d	rs1060500203
GWAS Ctlg	rs1060500203

Max Magnitude

0

ClinVar
Risk	rs1060500203(T;T)
Alt	rs1060500203(T;T)
Reference	Rs1060500203(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189872227G>T
CLNSRC
CLNACC	RCV000461180.1,