rs748459670

Orientation

plus

Stabilized

plus

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

Make rs748459670(C;C)

Make rs748459670(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

47978015

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs748459670
dbSNP (classic)	rs748459670
ClinGen	rs748459670
ebi	rs748459670
HLI	rs748459670
Exac	rs748459670
Gnomad	rs748459670
Varsome	rs748459670
LitVar	rs748459670
Map	rs748459670
PheGenI	rs748459670
Biobank	rs748459670
1000 genomes	rs748459670
hgdp	rs748459670
ensembl	rs748459670
geneview	rs748459670
scholar	rs748459670
google	rs748459670
pharmgkb	rs748459670
gwascentral	rs748459670
openSNP	rs748459670
23andMe	rs748459670
SNPshot	rs748459670
SNPdbe	rs748459670
MSV3d	rs748459670
GWAS Ctlg	rs748459670

Max Magnitude

0

ClinVar
Risk	rs748459670(A;A) rs748459670(C;C)
Alt	rs748459670(A;A) rs748459670(C;C)
Reference	Rs748459670(G;G)
Significance	Pathogenic
Disease	Stickler syndrome type 1 not provided
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1 not provided
Reversed	0
HGVS	NC_000012.11:g.48371798G>A
CLNSRC
CLNACC	RCV000178552.2, RCV000479858.1,