rs587779601

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(G;G)	0	common in clinvar

Make rs587779601(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988599

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779601
dbSNP (classic)	rs587779601
ClinGen	rs587779601
ebi	rs587779601
HLI	rs587779601
Exac	rs587779601
Gnomad	rs587779601
Varsome	rs587779601
LitVar	rs587779601
Map	rs587779601
PheGenI	rs587779601
Biobank	rs587779601
1000 genomes	rs587779601
hgdp	rs587779601
ensembl	rs587779601
geneview	rs587779601
scholar	rs587779601
google	rs587779601
pharmgkb	rs587779601
gwascentral	rs587779601
openSNP	rs587779601
23andMe	rs587779601
SNPshot	rs587779601
SNPdbe	rs587779601
MSV3d	rs587779601
GWAS Ctlg	rs587779601

Max Magnitude

6.5

ClinVar
Risk	rs587779601(A;A)
Alt	rs587779601(A;A)
Reference	Rs587779601(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.189853325G>A
CLNSRC
CLNACC	RCV000087553.1,