rs267599120

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs267599120(A;A)

Make rs267599120(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

188988590

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs267599120
dbSNP (classic)	rs267599120
ClinGen	rs267599120
ebi	rs267599120
HLI	rs267599120
Exac	rs267599120
Gnomad	rs267599120
Varsome	rs267599120
LitVar	rs267599120
Map	rs267599120
PheGenI	rs267599120
Biobank	rs267599120
1000 genomes	rs267599120
hgdp	rs267599120
ensembl	rs267599120
geneview	rs267599120
scholar	rs267599120
google	rs267599120
pharmgkb	rs267599120
gwascentral	rs267599120
openSNP	rs267599120
23andMe	rs267599120
SNPshot	rs267599120
SNPdbe	rs267599120
MSV3d	rs267599120
GWAS Ctlg	rs267599120

Max Magnitude

0

ClinVar
Risk	rs267599120(A;A) rs267599120(C;C)
Alt	rs267599120(A;A) rs267599120(C;C)
Reference	Rs267599120(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189853316G>C
CLNSRC
CLNACC	RCV000087630.1,