rs587779550

Orientation

plus

Stabilized

plus

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

Make rs587779550(G;T)

Make rs587779550(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

189004135

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779550
dbSNP (classic)	rs587779550
ClinGen	rs587779550
ebi	rs587779550
HLI	rs587779550
Exac	rs587779550
Gnomad	rs587779550
Varsome	rs587779550
LitVar	rs587779550
Map	rs587779550
PheGenI	rs587779550
Biobank	rs587779550
1000 genomes	rs587779550
hgdp	rs587779550
ensembl	rs587779550
geneview	rs587779550
scholar	rs587779550
google	rs587779550
pharmgkb	rs587779550
gwascentral	rs587779550
openSNP	rs587779550
23andMe	rs587779550
SNPshot	rs587779550
SNPdbe	rs587779550
MSV3d	rs587779550
GWAS Ctlg	rs587779550

Max Magnitude

0

ClinVar
Risk	rs587779550(A;A) rs587779550(T;T)
Alt	rs587779550(A;A) rs587779550(T;T)
Reference	Rs587779550(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189868861G>A; NC_000002.11:g.189868861G>T
CLNSRC
CLNACC	RCV000087711.1, RCV000087491.1,