rs587779612

Orientation

plus

Stabilized

plus

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

Make rs587779612(CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC;CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC)

Make rs587779612(CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC;GGGCCCTCCTGGGATTAA)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188994037

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs587779612
dbSNP (classic)	rs587779612
ClinGen	rs587779612
ebi	rs587779612
HLI	rs587779612
Exac	rs587779612
Gnomad	rs587779612
Varsome	rs587779612
LitVar	rs587779612
Map	rs587779612
PheGenI	rs587779612
Biobank	rs587779612
1000 genomes	rs587779612
hgdp	rs587779612
ensembl	rs587779612
geneview	rs587779612
scholar	rs587779612
google	rs587779612
pharmgkb	rs587779612
gwascentral	rs587779612
openSNP	rs587779612
23andMe	rs587779612
SNPshot	rs587779612
SNPdbe	rs587779612
MSV3d	rs587779612
GWAS Ctlg	rs587779612

Max Magnitude

0

ClinVar
Risk	rs587779612(CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC;CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC)
Alt	rs587779612(CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC;CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC)
Reference	Rs587779612(GGGCCCTCCTGGGATTAA;GGGCCCTCCTGGGATTAA)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189858763_189858780del18insCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
CLNSRC
CLNACC	RCV000087570.1,