rs794727225

Orientation

minus

Stabilized

minus

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

Make rs794727225(-;-)

Make rs794727225(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47987618

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs794727225
dbSNP (classic)	rs794727225
ClinGen	rs794727225
ebi	rs794727225
HLI	rs794727225
Exac	rs794727225
Gnomad	rs794727225
Varsome	rs794727225
LitVar	rs794727225
Map	rs794727225
PheGenI	rs794727225
Biobank	rs794727225
1000 genomes	rs794727225
hgdp	rs794727225
ensembl	rs794727225
geneview	rs794727225
scholar	rs794727225
google	rs794727225
pharmgkb	rs794727225
gwascentral	rs794727225
openSNP	rs794727225
23andMe	rs794727225
SNPshot	rs794727225
SNPdbe	rs794727225
MSV3d	rs794727225
GWAS Ctlg	rs794727225

Max Magnitude

0

ClinVar
Risk	rs794727225(-;-)
Alt	rs794727225(-;-)
Reference	Rs794727225(G;G)
Significance	Pathogenic
Disease	Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48381401delC
CLNSRC
CLNACC	RCV000175420.1,