rs1057518653

Orientation

plus

Stabilized

plus

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

Make rs1057518653(-;-)

Make rs1057518653(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134812622

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1057518653
dbSNP (classic)	rs1057518653
ClinGen	rs1057518653
ebi	rs1057518653
HLI	rs1057518653
Exac	rs1057518653
Gnomad	rs1057518653
Varsome	rs1057518653
LitVar	rs1057518653
Map	rs1057518653
PheGenI	rs1057518653
Biobank	rs1057518653
1000 genomes	rs1057518653
hgdp	rs1057518653
ensembl	rs1057518653
geneview	rs1057518653
scholar	rs1057518653
google	rs1057518653
pharmgkb	rs1057518653
gwascentral	rs1057518653
openSNP	rs1057518653
23andMe	rs1057518653
SNPshot	rs1057518653
SNPdbe	rs1057518653
MSV3d	rs1057518653
GWAS Ctlg	rs1057518653

Max Magnitude

0

ClinVar
Risk	rs1057518653(-;-)
Alt	rs1057518653(-;-)
Reference	Rs1057518653(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137704468delT
CLNSRC
CLNACC	RCV000415258.1,