rs794727185

Orientation

minus

Stabilized

minus

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

Make rs794727185(-;-)

Make rs794727185(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47989773

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs794727185
dbSNP (classic)	rs794727185
ClinGen	rs794727185
ebi	rs794727185
HLI	rs794727185
Exac	rs794727185
Gnomad	rs794727185
Varsome	rs794727185
LitVar	rs794727185
Map	rs794727185
PheGenI	rs794727185
Biobank	rs794727185
1000 genomes	rs794727185
hgdp	rs794727185
ensembl	rs794727185
geneview	rs794727185
scholar	rs794727185
google	rs794727185
pharmgkb	rs794727185
gwascentral	rs794727185
openSNP	rs794727185
23andMe	rs794727185
SNPshot	rs794727185
SNPdbe	rs794727185
MSV3d	rs794727185
GWAS Ctlg	rs794727185

Max Magnitude

0

ClinVar
Risk	rs794727185(-;-)
Alt	rs794727185(-;-)
Reference	Rs794727185(C;C)
Significance	Pathogenic
Disease	Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48383556delG
CLNSRC
CLNACC	RCV000175163.1,