rs587779518

Orientation

plus

Stabilized

plus

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

Make rs587779518(G;T)

Make rs587779518(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188989424

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779518
dbSNP (classic)	rs587779518
ClinGen	rs587779518
ebi	rs587779518
HLI	rs587779518
Exac	rs587779518
Gnomad	rs587779518
Varsome	rs587779518
LitVar	rs587779518
Map	rs587779518
PheGenI	rs587779518
Biobank	rs587779518
1000 genomes	rs587779518
hgdp	rs587779518
ensembl	rs587779518
geneview	rs587779518
scholar	rs587779518
google	rs587779518
pharmgkb	rs587779518
gwascentral	rs587779518
openSNP	rs587779518
23andMe	rs587779518
SNPshot	rs587779518
SNPdbe	rs587779518
MSV3d	rs587779518
GWAS Ctlg	rs587779518

Max Magnitude

0

ClinVar
Risk	rs587779518(A;A) rs587779518(T;T)
Alt	rs587779518(A;A) rs587779518(T;T)
Reference	Rs587779518(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.189854150G>A; NC_000002.11:g.189854150G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087631.1, RCV000087455.1,