rs121912917

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 rs121912917(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189008952

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912917
dbSNP (classic)	rs121912917
ClinGen	rs121912917
ebi	rs121912917
HLI	rs121912917
Exac	rs121912917
Gnomad	rs121912917
Varsome	rs121912917
LitVar	rs121912917
Map	rs121912917
PheGenI	rs121912917
Biobank	rs121912917
1000 genomes	rs121912917
hgdp	rs121912917
ensembl	rs121912917
geneview	rs121912917
scholar	rs121912917
google	rs121912917
pharmgkb	rs121912917
gwascentral	rs121912917
openSNP	rs121912917
23andMe	rs121912917
SNPshot	rs121912917
SNPdbe	rs121912917
MSV3d	rs121912917
GWAS Ctlg	rs121912917

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121912917(A;A) rs121912917(T;T)
Alt	rs121912917(A;A) rs121912917(T;T)
Reference	Rs121912917(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not provided
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 not provided
Reversed	0
HGVS	NC_000002.11:g.189873678G>A; NC_000002.11:g.189873678G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018756.28, RCV000434900.1, RCV000087419.1,