rs1060502248

Orientation

plus

Stabilized

plus

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

Make rs1060502248(A;A)

Make rs1060502248(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134780147

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1060502248
dbSNP (classic)	rs1060502248
ClinGen	rs1060502248
ebi	rs1060502248
HLI	rs1060502248
Exac	rs1060502248
Gnomad	rs1060502248
Varsome	rs1060502248
LitVar	rs1060502248
Map	rs1060502248
PheGenI	rs1060502248
Biobank	rs1060502248
1000 genomes	rs1060502248
hgdp	rs1060502248
ensembl	rs1060502248
geneview	rs1060502248
scholar	rs1060502248
google	rs1060502248
pharmgkb	rs1060502248
gwascentral	rs1060502248
openSNP	rs1060502248
23andMe	rs1060502248
SNPshot	rs1060502248
SNPdbe	rs1060502248
MSV3d	rs1060502248
GWAS Ctlg	rs1060502248

Max Magnitude

0

ClinVar
Risk	rs1060502248(A;A)
Alt	rs1060502248(A;A)
Reference	Rs1060502248(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137671993G>A
CLNSRC
CLNACC	RCV000469802.1,