rs111929073

Orientation

plus

Stabilized

plus

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

Make rs111929073(A;A)

Make rs111929073(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

188999471

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs111929073
dbSNP (classic)	rs111929073
ClinGen	rs111929073
ebi	rs111929073
HLI	rs111929073
Exac	rs111929073
Gnomad	rs111929073
Varsome	rs111929073
LitVar	rs111929073
Map	rs111929073
PheGenI	rs111929073
Biobank	rs111929073
1000 genomes	rs111929073
hgdp	rs111929073
ensembl	rs111929073
geneview	rs111929073
scholar	rs111929073
google	rs111929073
pharmgkb	rs111929073
gwascentral	rs111929073
openSNP	rs111929073
23andMe	rs111929073
SNPshot	rs111929073
SNPdbe	rs111929073
MSV3d	rs111929073
GWAS Ctlg	rs111929073

Max Magnitude

6.5

ClinVar
Risk	rs111929073(A;A) rs111929073(C;C) rs111929073(T;T)
Alt	rs111929073(A;A) rs111929073(C;C) rs111929073(T;T)
Reference	Rs111929073(G;G)
Significance	Other
Disease	not provided Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	not provided Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189864197G>C; NC_000002.11:g.189864197G>T
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000434873.1, RCV000087633.2,