rs112456072

Orientation

plus

Stabilized

plus

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

Make rs112456072(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189008961

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs112456072
dbSNP (classic)	rs112456072
ClinGen	rs112456072
ebi	rs112456072
HLI	rs112456072
Exac	rs112456072
Gnomad	rs112456072
Varsome	rs112456072
LitVar	rs112456072
Map	rs112456072
PheGenI	rs112456072
Biobank	rs112456072
1000 genomes	rs112456072
hgdp	rs112456072
ensembl	rs112456072
geneview	rs112456072
scholar	rs112456072
google	rs112456072
pharmgkb	rs112456072
gwascentral	rs112456072
openSNP	rs112456072
23andMe	rs112456072
SNPshot	rs112456072
SNPdbe	rs112456072
MSV3d	rs112456072
GWAS Ctlg	rs112456072

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0017
Related	also

ClinVar
Risk	rs112456072(A;A)
Alt	rs112456072(A;A)
Reference	Rs112456072(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.189873687G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018758.28,