rs786205104

Orientation

minus

Stabilized

minus

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

Make rs786205104(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

189061561

Gene

COL5A2

is a	snp
is	mentioned by
dbSNP	rs786205104
dbSNP (classic)	rs786205104
ClinGen	rs786205104
ebi	rs786205104
HLI	rs786205104
Exac	rs786205104
Gnomad	rs786205104
Varsome	rs786205104
LitVar	rs786205104
Map	rs786205104
PheGenI	rs786205104
Biobank	rs786205104
1000 genomes	rs786205104
hgdp	rs786205104
ensembl	rs786205104
geneview	rs786205104
scholar	rs786205104
google	rs786205104
pharmgkb	rs786205104
gwascentral	rs786205104
openSNP	rs786205104
23andMe	rs786205104
SNPshot	rs786205104
SNPdbe	rs786205104
MSV3d	rs786205104
GWAS Ctlg	rs786205104

Max Magnitude

5.5

ClinVar
Risk	rs786205104(T;T)
Alt	rs786205104(T;T)
Reference	Rs786205104(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A2
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	1
HGVS	NC_000002.11:g.189926287C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018737.28,