rs1516446

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics
(T;T)	0	common in clinvar

Make rs1516446(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189010695

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs1516446
dbSNP (classic)	rs1516446
ClinGen	rs1516446
ebi	rs1516446
HLI	rs1516446
Exac	rs1516446
Gnomad	rs1516446
Varsome	rs1516446
LitVar	rs1516446
Map	rs1516446
PheGenI	rs1516446
Biobank	rs1516446
1000 genomes	rs1516446
hgdp	rs1516446
ensembl	rs1516446
geneview	rs1516446
scholar	rs1516446
google	rs1516446
pharmgkb	rs1516446
gwascentral	rs1516446
openSNP	rs1516446
23andMe	rs1516446
SNPshot	rs1516446
SNPdbe	rs1516446
MSV3d	rs1516446
GWAS Ctlg	rs1516446

GMAF

0.003214

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	Rs1516446(G;G)
Alt	Rs1516446(G;G)
Reference	Rs1516446(T;T)
Significance	Non-pathogenic
Disease	not specified Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	not specified Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189875421T\x3d; NC_000002.11:g.189875421T>G
CLNSRC	ClinVar GeneDx
CLNACC	RCV000124416.2, RCV000472808.1, RCV000218509.1,