rs587779525

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CAAAGAGGAGAACCTGGA)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(CAAAGAGGAGAACCTGGA;CAAAGAGGAGAACCTGGA)	0	common/normal
(CCTGGACAAAGAGGAGAA;CCTGGACAAAGAGGAGAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs587779525(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188993409

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs587779525
dbSNP (classic)	rs587779525
ClinGen	rs587779525
ebi	rs587779525
HLI	rs587779525
Exac	rs587779525
Gnomad	rs587779525
Varsome	rs587779525
LitVar	rs587779525
Map	rs587779525
PheGenI	rs587779525
Biobank	rs587779525
1000 genomes	rs587779525
hgdp	rs587779525
ensembl	rs587779525
geneview	rs587779525
scholar	rs587779525
google	rs587779525
pharmgkb	rs587779525
gwascentral	rs587779525
openSNP	rs587779525
23andMe	rs587779525
SNPshot	rs587779525
SNPdbe	rs587779525
MSV3d	rs587779525
GWAS Ctlg	rs587779525

Max Magnitude

6.5

ClinVar
Risk	rs587779525(-;-)
Alt	rs587779525(-;-)
Reference	Rs587779525(CCTGGACAAAGAGGAGAA;CCTGGACAAAGAGGAGAA)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189858135_189858152del18
CLNSRC
CLNACC	RCV000087462.1,