rs121912915

Orientation

plus

Stabilized

plus

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

Make rs121912915(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189006965

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912915
dbSNP (classic)	rs121912915
ClinGen	rs121912915
ebi	rs121912915
HLI	rs121912915
Exac	rs121912915
Gnomad	rs121912915
Varsome	rs121912915
LitVar	rs121912915
Map	rs121912915
PheGenI	rs121912915
Biobank	rs121912915
1000 genomes	rs121912915
hgdp	rs121912915
ensembl	rs121912915
geneview	rs121912915
scholar	rs121912915
google	rs121912915
pharmgkb	rs121912915
gwascentral	rs121912915
openSNP	rs121912915
23andMe	rs121912915
SNPshot	rs121912915
SNPdbe	rs121912915
MSV3d	rs121912915
GWAS Ctlg	rs121912915

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912915(T;T)
Alt	rs121912915(T;T)
Reference	Rs121912915(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.189871691G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018749.28,