rs786205100

Orientation

plus

Stabilized

plus

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

Make rs786205100(-;-)

Make rs786205100(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134812612

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs786205100
dbSNP (classic)	rs786205100
ClinGen	rs786205100
ebi	rs786205100
HLI	rs786205100
Exac	rs786205100
Gnomad	rs786205100
Varsome	rs786205100
LitVar	rs786205100
Map	rs786205100
PheGenI	rs786205100
Biobank	rs786205100
1000 genomes	rs786205100
hgdp	rs786205100
ensembl	rs786205100
geneview	rs786205100
scholar	rs786205100
google	rs786205100
pharmgkb	rs786205100
gwascentral	rs786205100
openSNP	rs786205100
23andMe	rs786205100
SNPshot	rs786205100
SNPdbe	rs786205100
MSV3d	rs786205100
GWAS Ctlg	rs786205100

Max Magnitude

0

ClinVar
Risk	rs786205100(-;-)
Alt	rs786205100(-;-)
Reference	Rs786205100(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137704458delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018730.24,