rs1060500204

Orientation

plus

Stabilized

plus

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

Make rs1060500204(C;C)

Make rs1060500204(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

188994540

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs1060500204
dbSNP (classic)	rs1060500204
ClinGen	rs1060500204
ebi	rs1060500204
HLI	rs1060500204
Exac	rs1060500204
Gnomad	rs1060500204
Varsome	rs1060500204
LitVar	rs1060500204
Map	rs1060500204
PheGenI	rs1060500204
Biobank	rs1060500204
1000 genomes	rs1060500204
hgdp	rs1060500204
ensembl	rs1060500204
geneview	rs1060500204
scholar	rs1060500204
google	rs1060500204
pharmgkb	rs1060500204
gwascentral	rs1060500204
openSNP	rs1060500204
23andMe	rs1060500204
SNPshot	rs1060500204
SNPdbe	rs1060500204
MSV3d	rs1060500204
GWAS Ctlg	rs1060500204

Max Magnitude

0

ClinVar
Risk	rs1060500204(C;C)
Alt	rs1060500204(C;C)
Reference	Rs1060500204(G;G)
Significance	Probable-Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189859266G>C
CLNSRC
CLNACC	RCV000468152.1,