rs794727462

Orientation

minus

Stabilized

minus

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

Make rs794727462(A;A)

Make rs794727462(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47984572

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs794727462
dbSNP (classic)	rs794727462
ClinGen	rs794727462
ebi	rs794727462
HLI	rs794727462
Exac	rs794727462
Gnomad	rs794727462
Varsome	rs794727462
LitVar	rs794727462
Map	rs794727462
PheGenI	rs794727462
Biobank	rs794727462
1000 genomes	rs794727462
hgdp	rs794727462
ensembl	rs794727462
geneview	rs794727462
scholar	rs794727462
google	rs794727462
pharmgkb	rs794727462
gwascentral	rs794727462
openSNP	rs794727462
23andMe	rs794727462
SNPshot	rs794727462
SNPdbe	rs794727462
MSV3d	rs794727462
GWAS Ctlg	rs794727462

Max Magnitude

0

ClinVar
Risk	rs794727462(A;A)
Alt	rs794727462(A;A)
Reference	Rs794727462(G;G)
Significance	Probable-Pathogenic
Disease	Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48378355C>T
CLNSRC
CLNACC	RCV000176855.1,