rs1057519596

Orientation

plus

Stabilized

plus

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

Make rs1057519596(-;C)

Make rs1057519596(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134767325

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1057519596
dbSNP (classic)	rs1057519596
ClinGen	rs1057519596
ebi	rs1057519596
HLI	rs1057519596
Exac	rs1057519596
Gnomad	rs1057519596
Varsome	rs1057519596
LitVar	rs1057519596
Map	rs1057519596
PheGenI	rs1057519596
Biobank	rs1057519596
1000 genomes	rs1057519596
hgdp	rs1057519596
ensembl	rs1057519596
geneview	rs1057519596
scholar	rs1057519596
google	rs1057519596
pharmgkb	rs1057519596
gwascentral	rs1057519596
openSNP	rs1057519596
23andMe	rs1057519596
SNPshot	rs1057519596
SNPdbe	rs1057519596
MSV3d	rs1057519596
GWAS Ctlg	rs1057519596

Max Magnitude

0

ClinVar
Risk	rs1057519596(C;C)
Alt	rs1057519596(C;C)
Reference	Rs1057519596(-;-)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137659171dupC
CLNSRC
CLNACC	RCV000417109.1,