rs794727202

Orientation

minus

Stabilized

minus

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

Make rs794727202(A;A)

Make rs794727202(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47989235

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs794727202
dbSNP (classic)	rs794727202
ClinGen	rs794727202
ebi	rs794727202
HLI	rs794727202
Exac	rs794727202
Gnomad	rs794727202
Varsome	rs794727202
LitVar	rs794727202
Map	rs794727202
PheGenI	rs794727202
Biobank	rs794727202
1000 genomes	rs794727202
hgdp	rs794727202
ensembl	rs794727202
geneview	rs794727202
scholar	rs794727202
google	rs794727202
pharmgkb	rs794727202
gwascentral	rs794727202
openSNP	rs794727202
23andMe	rs794727202
SNPshot	rs794727202
SNPdbe	rs794727202
MSV3d	rs794727202
GWAS Ctlg	rs794727202

Max Magnitude

0

ClinVar
Risk	rs794727202(A;A)
Alt	rs794727202(A;A)
Reference	Rs794727202(G;G)
Significance	Probable-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.48383018C>T
CLNSRC
CLNACC	RCV000175290.1, RCV000259706.1,