rs121912924

Orientation

plus

Stabilized

plus

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

Make rs121912924(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189007546

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912924
dbSNP (classic)	rs121912924
ClinGen	rs121912924
ebi	rs121912924
HLI	rs121912924
Exac	rs121912924
Gnomad	rs121912924
Varsome	rs121912924
LitVar	rs121912924
Map	rs121912924
PheGenI	rs121912924
Biobank	rs121912924
1000 genomes	rs121912924
hgdp	rs121912924
ensembl	rs121912924
geneview	rs121912924
scholar	rs121912924
google	rs121912924
pharmgkb	rs121912924
gwascentral	rs121912924
openSNP	rs121912924
23andMe	rs121912924
SNPshot	rs121912924
SNPdbe	rs121912924
MSV3d	rs121912924
GWAS Ctlg	rs121912924

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121912924(A;A)
Alt	rs121912924(A;A)
Reference	Rs121912924(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.189872272G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018766.28,