rs587779426

Orientation

plus

Stabilized

plus

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

Make rs587779426(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188991724

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779426
dbSNP (classic)	rs587779426
ClinGen	rs587779426
ebi	rs587779426
HLI	rs587779426
Exac	rs587779426
Gnomad	rs587779426
Varsome	rs587779426
LitVar	rs587779426
Map	rs587779426
PheGenI	rs587779426
Biobank	rs587779426
1000 genomes	rs587779426
hgdp	rs587779426
ensembl	rs587779426
geneview	rs587779426
scholar	rs587779426
google	rs587779426
pharmgkb	rs587779426
gwascentral	rs587779426
openSNP	rs587779426
23andMe	rs587779426
SNPshot	rs587779426
SNPdbe	rs587779426
MSV3d	rs587779426
GWAS Ctlg	rs587779426

Max Magnitude

6.5

ClinVar
Risk	rs587779426(A;A) rs587779426(C;C)
Alt	rs587779426(A;A) rs587779426(C;C)
Reference	Rs587779426(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189856450T>A; NC_000002.11:g.189856450T>C
CLNSRC
CLNACC	RCV000087349.1, RCV000087377.1,