rs794727261

Orientation

minus

Stabilized

minus

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

Make rs794727261(A;A)

Make rs794727261(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47999953

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs794727261
dbSNP (classic)	rs794727261
ClinGen	rs794727261
ebi	rs794727261
HLI	rs794727261
Exac	rs794727261
Gnomad	rs794727261
Varsome	rs794727261
LitVar	rs794727261
Map	rs794727261
PheGenI	rs794727261
Biobank	rs794727261
1000 genomes	rs794727261
hgdp	rs794727261
ensembl	rs794727261
geneview	rs794727261
scholar	rs794727261
google	rs794727261
pharmgkb	rs794727261
gwascentral	rs794727261
openSNP	rs794727261
23andMe	rs794727261
SNPshot	rs794727261
SNPdbe	rs794727261
MSV3d	rs794727261
GWAS Ctlg	rs794727261

Max Magnitude

0

ClinVar
Risk	rs794727261(A;A)
Alt	rs794727261(A;A)
Reference	Rs794727261(C;C)
Significance	Pathogenic
Disease	Stickler syndrome type 1 not provided
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1 not provided
Reversed	1
HGVS	NC_000012.11:g.48393736G>T
CLNSRC
CLNACC	RCV000175700.1, RCV000255165.2,