rs121912923

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(C;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 rs121912923(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188996479

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912923
dbSNP (classic)	rs121912923
ClinGen	rs121912923
ebi	rs121912923
HLI	rs121912923
Exac	rs121912923
Gnomad	rs121912923
Varsome	rs121912923
LitVar	rs121912923
Map	rs121912923
PheGenI	rs121912923
Biobank	rs121912923
1000 genomes	rs121912923
hgdp	rs121912923
ensembl	rs121912923
geneview	rs121912923
scholar	rs121912923
google	rs121912923
pharmgkb	rs121912923
gwascentral	rs121912923
openSNP	rs121912923
23andMe	rs121912923
SNPshot	rs121912923
SNPdbe	rs121912923
MSV3d	rs121912923
GWAS Ctlg	rs121912923

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121912923(A;A) rs121912923(C;C)
Alt	rs121912923(A;A) rs121912923(C;C)
Reference	Rs121912923(G;G)
Significance	Other
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.189861205G>A; NC_000002.11:g.189861205G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018765.29, RCV000181088.4, RCV000087353.1,