rs121912920

Orientation

plus

Stabilized

plus

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

Make rs121912920(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189002316

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912920
dbSNP (classic)	rs121912920
ClinGen	rs121912920
ebi	rs121912920
HLI	rs121912920
Exac	rs121912920
Gnomad	rs121912920
Varsome	rs121912920
LitVar	rs121912920
Map	rs121912920
PheGenI	rs121912920
Biobank	rs121912920
1000 genomes	rs121912920
hgdp	rs121912920
ensembl	rs121912920
geneview	rs121912920
scholar	rs121912920
google	rs121912920
pharmgkb	rs121912920
gwascentral	rs121912920
openSNP	rs121912920
23andMe	rs121912920
SNPshot	rs121912920
SNPdbe	rs121912920
MSV3d	rs121912920
GWAS Ctlg	rs121912920

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121912920(A;A)
Alt	rs121912920(A;A)
Reference	Rs121912920(G;G)
Significance	Pathogenic
Disease	EHLERS-DANLOS SYNDROME
Variation	info
Gene	COL3A1
CLNDBN	EHLERS-DANLOS SYNDROME, TYPE IV, NONVASCULAR VARIANT
Reversed	0
HGVS	NC_000002.11:g.189867042G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018761.28,