rs1060500199

Orientation

plus

Stabilized

plus

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

Make rs1060500199(-;-)

Make rs1060500199(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

188996168

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs1060500199
dbSNP (classic)	rs1060500199
ClinGen	rs1060500199
ebi	rs1060500199
HLI	rs1060500199
Exac	rs1060500199
Gnomad	rs1060500199
Varsome	rs1060500199
LitVar	rs1060500199
Map	rs1060500199
PheGenI	rs1060500199
Biobank	rs1060500199
1000 genomes	rs1060500199
hgdp	rs1060500199
ensembl	rs1060500199
geneview	rs1060500199
scholar	rs1060500199
google	rs1060500199
pharmgkb	rs1060500199
gwascentral	rs1060500199
openSNP	rs1060500199
23andMe	rs1060500199
SNPshot	rs1060500199
SNPdbe	rs1060500199
MSV3d	rs1060500199
GWAS Ctlg	rs1060500199

Max Magnitude

0

ClinVar
Risk	rs1060500199(-;-)
Alt	rs1060500199(-;-)
Reference	Rs1060500199(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189860894delC
CLNSRC
CLNACC	RCV000464302.1,