rs786205101

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5.5	Ehlers-Danlos Syndrome (EDS) classic type

Make rs786205101(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134727264

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs786205101
dbSNP (classic)	rs786205101
ClinGen	rs786205101
ebi	rs786205101
HLI	rs786205101
Exac	rs786205101
Gnomad	rs786205101
Varsome	rs786205101
LitVar	rs786205101
Map	rs786205101
PheGenI	rs786205101
Biobank	rs786205101
1000 genomes	rs786205101
hgdp	rs786205101
ensembl	rs786205101
geneview	rs786205101
scholar	rs786205101
google	rs786205101
pharmgkb	rs786205101
gwascentral	rs786205101
openSNP	rs786205101
23andMe	rs786205101
SNPshot	rs786205101
SNPdbe	rs786205101
MSV3d	rs786205101
GWAS Ctlg	rs786205101

Max Magnitude

5.5

ClinVar
Risk	rs786205101(G;G)
Alt	rs786205101(G;G)
Reference	Rs786205101(A;A)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137619110A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018732.24,