rs397509375

Orientation

plus

Stabilized

plus

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

Make rs397509375(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188988140

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs397509375
dbSNP (classic)	rs397509375
ClinGen	rs397509375
ebi	rs397509375
HLI	rs397509375
Exac	rs397509375
Gnomad	rs397509375
Varsome	rs397509375
LitVar	rs397509375
Map	rs397509375
PheGenI	rs397509375
Biobank	rs397509375
1000 genomes	rs397509375
hgdp	rs397509375
ensembl	rs397509375
geneview	rs397509375
scholar	rs397509375
google	rs397509375
pharmgkb	rs397509375
gwascentral	rs397509375
openSNP	rs397509375
23andMe	rs397509375
SNPshot	rs397509375
SNPdbe	rs397509375
MSV3d	rs397509375
GWAS Ctlg	rs397509375

Max Magnitude

6.5

ClinVar
Risk	rs397509375(A;A) rs397509375(C;C)
Alt	rs397509375(A;A) rs397509375(C;C)
Reference	Rs397509375(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189852866T>A; NC_000002.11:g.189852866T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087497.1, RCV000018760.28,