rs587779502

Orientation

plus

Stabilized

plus

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

Make rs587779502(A;T)

Make rs587779502(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189008033

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779502
dbSNP (classic)	rs587779502
ClinGen	rs587779502
ebi	rs587779502
HLI	rs587779502
Exac	rs587779502
Gnomad	rs587779502
Varsome	rs587779502
LitVar	rs587779502
Map	rs587779502
PheGenI	rs587779502
Biobank	rs587779502
1000 genomes	rs587779502
hgdp	rs587779502
ensembl	rs587779502
geneview	rs587779502
scholar	rs587779502
google	rs587779502
pharmgkb	rs587779502
gwascentral	rs587779502
openSNP	rs587779502
23andMe	rs587779502
SNPshot	rs587779502
SNPdbe	rs587779502
MSV3d	rs587779502
GWAS Ctlg	rs587779502

Max Magnitude

0

ClinVar
Risk	rs587779502(G;G) rs587779502(T;T)
Alt	rs587779502(G;G) rs587779502(T;T)
Reference	Rs587779502(A;A)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189872759A>G; NC_000002.11:g.189872759A>T
CLNSRC
CLNACC	RCV000087660.1, RCV000087437.1,