rs1057521106

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Ehlers-Danlos syndrome, type 4 (predicted)

Make rs1057521106(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

188991016

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs1057521106
dbSNP (classic)	rs1057521106
ClinGen	rs1057521106
ebi	rs1057521106
HLI	rs1057521106
Exac	rs1057521106
Gnomad	rs1057521106
Varsome	rs1057521106
LitVar	rs1057521106
Map	rs1057521106
PheGenI	rs1057521106
Biobank	rs1057521106
1000 genomes	rs1057521106
hgdp	rs1057521106
ensembl	rs1057521106
geneview	rs1057521106
scholar	rs1057521106
google	rs1057521106
pharmgkb	rs1057521106
gwascentral	rs1057521106
openSNP	rs1057521106
23andMe	rs1057521106
SNPshot	rs1057521106
SNPdbe	rs1057521106
MSV3d	rs1057521106
GWAS Ctlg	rs1057521106

Max Magnitude

5

aka c.811C>T (p.Arg271Ter)

Reported in ClinVar as pathogenic for vascular Ehlers-Danlos syndrome, type 4; also observed in a sudden cardiac death patient [PMID 31727422]

ClinVar
Risk	rs1057521106(T;T)
Alt	rs1057521106(T;T)
Reference	Rs1057521106(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL3A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000002.11:g.189855742C>T
CLNSRC
CLNACC	RCV000426073.1,