rs111505097

Orientation

plus

Stabilized

plus

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

Make rs111505097(A;A)

Reference

GRCh38 38.1/142

Chromosome

2

Position

189008943

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs111505097
dbSNP (classic)	rs111505097
ClinGen	rs111505097
ebi	rs111505097
HLI	rs111505097
Exac	rs111505097
Gnomad	rs111505097
Varsome	rs111505097
LitVar	rs111505097
Map	rs111505097
PheGenI	rs111505097
Biobank	rs111505097
1000 genomes	rs111505097
hgdp	rs111505097
ensembl	rs111505097
geneview	rs111505097
scholar	rs111505097
google	rs111505097
pharmgkb	rs111505097
gwascentral	rs111505097
openSNP	rs111505097
23andMe	rs111505097
SNPshot	rs111505097
SNPdbe	rs111505097
MSV3d	rs111505097
GWAS Ctlg	rs111505097

Max Magnitude

6.5

ClinVar
Risk	rs111505097(A;A) rs111505097(T;T)
Alt	rs111505097(A;A) rs111505097(T;T)
Reference	Rs111505097(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.189873669G>A; NC_000002.11:g.189873669G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087619.1, RCV000087592.1,