rs1060500187

Orientation

plus

Stabilized

plus

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

Make rs1060500187(A;A)

Make rs1060500187(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

189010187

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs1060500187
dbSNP (classic)	rs1060500187
ClinGen	rs1060500187
ebi	rs1060500187
HLI	rs1060500187
Exac	rs1060500187
Gnomad	rs1060500187
Varsome	rs1060500187
LitVar	rs1060500187
Map	rs1060500187
PheGenI	rs1060500187
Biobank	rs1060500187
1000 genomes	rs1060500187
hgdp	rs1060500187
ensembl	rs1060500187
geneview	rs1060500187
scholar	rs1060500187
google	rs1060500187
pharmgkb	rs1060500187
gwascentral	rs1060500187
openSNP	rs1060500187
23andMe	rs1060500187
SNPshot	rs1060500187
SNPdbe	rs1060500187
MSV3d	rs1060500187
GWAS Ctlg	rs1060500187

Max Magnitude

0

ClinVar
Risk	rs1060500187(A;A)
Alt	rs1060500187(A;A)
Reference	Rs1060500187(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.189874913G>A
CLNSRC
CLNACC	RCV000474369.1,