rs397509370

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;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 rs397509370(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188994595

Gene	COL3A1, MIR3606

is a	snp
is	mentioned by
dbSNP	rs397509370
dbSNP (classic)	rs397509370
ClinGen	rs397509370
ebi	rs397509370
HLI	rs397509370
Exac	rs397509370
Gnomad	rs397509370
Varsome	rs397509370
LitVar	rs397509370
Map	rs397509370
PheGenI	rs397509370
Biobank	rs397509370
1000 genomes	rs397509370
hgdp	rs397509370
ensembl	rs397509370
geneview	rs397509370
scholar	rs397509370
google	rs397509370
pharmgkb	rs397509370
gwascentral	rs397509370
openSNP	rs397509370
23andMe	rs397509370
SNPshot	rs397509370
SNPdbe	rs397509370
MSV3d	rs397509370
GWAS Ctlg	rs397509370

Max Magnitude

6.5

ClinVar
Risk	rs397509370(A;A) rs397509370(T;T)
Alt	rs397509370(A;A) rs397509370(T;T)
Reference	Rs397509370(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1 MIR3606
CLNDBN	Ehlers-Danlos syndrome, type 4 variant Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189859321G>A; NC_000002.11:g.189859321G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018742.24, RCV000087697.1, RCV000087712.1,