rs1060500194

Orientation

plus

Stabilized

plus

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

Make rs1060500194(C;C)

Make rs1060500194(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

188994235

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs1060500194
dbSNP (classic)	rs1060500194
ClinGen	rs1060500194
ebi	rs1060500194
HLI	rs1060500194
Exac	rs1060500194
Gnomad	rs1060500194
Varsome	rs1060500194
LitVar	rs1060500194
Map	rs1060500194
PheGenI	rs1060500194
Biobank	rs1060500194
1000 genomes	rs1060500194
hgdp	rs1060500194
ensembl	rs1060500194
geneview	rs1060500194
scholar	rs1060500194
google	rs1060500194
pharmgkb	rs1060500194
gwascentral	rs1060500194
openSNP	rs1060500194
23andMe	rs1060500194
SNPshot	rs1060500194
SNPdbe	rs1060500194
MSV3d	rs1060500194
GWAS Ctlg	rs1060500194

Max Magnitude

0

ClinVar
Risk	rs1060500194(C;C)
Alt	rs1060500194(C;C)
Reference	Rs1060500194(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.189858961G>C
CLNSRC
CLNACC	RCV000460412.1,