rs794727546

Orientation

minus

Stabilized

minus

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

Make rs794727546(C;C)

Make rs794727546(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47983419

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs794727546
dbSNP (classic)	rs794727546
ClinGen	rs794727546
ebi	rs794727546
HLI	rs794727546
Exac	rs794727546
Gnomad	rs794727546
Varsome	rs794727546
LitVar	rs794727546
Map	rs794727546
PheGenI	rs794727546
Biobank	rs794727546
1000 genomes	rs794727546
hgdp	rs794727546
ensembl	rs794727546
geneview	rs794727546
scholar	rs794727546
google	rs794727546
pharmgkb	rs794727546
gwascentral	rs794727546
openSNP	rs794727546
23andMe	rs794727546
SNPshot	rs794727546
SNPdbe	rs794727546
MSV3d	rs794727546
GWAS Ctlg	rs794727546

Max Magnitude

0

ClinVar
Risk	rs794727546(C;C)
Alt	rs794727546(C;C)
Reference	Rs794727546(G;G)
Significance	Pathogenic
Disease	not provided Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	not provided Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48377202C>G
CLNSRC
CLNACC	RCV000177534.1, RCV000290485.1,