rs1060502242

Orientation

plus

Stabilized

plus

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

Make rs1060502242(-;-)

Make rs1060502242(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134691030

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1060502242
dbSNP (classic)	rs1060502242
ClinGen	rs1060502242
ebi	rs1060502242
HLI	rs1060502242
Exac	rs1060502242
Gnomad	rs1060502242
Varsome	rs1060502242
LitVar	rs1060502242
Map	rs1060502242
PheGenI	rs1060502242
Biobank	rs1060502242
1000 genomes	rs1060502242
hgdp	rs1060502242
ensembl	rs1060502242
geneview	rs1060502242
scholar	rs1060502242
google	rs1060502242
pharmgkb	rs1060502242
gwascentral	rs1060502242
openSNP	rs1060502242
23andMe	rs1060502242
SNPshot	rs1060502242
SNPdbe	rs1060502242
MSV3d	rs1060502242
GWAS Ctlg	rs1060502242

Max Magnitude

0

ClinVar
Risk	rs1060502242(-;-)
Alt	rs1060502242(-;-)
Reference	Rs1060502242(AG;AG)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137582876_137582877delAG
CLNSRC
CLNACC	RCV000477019.1,