rs1034762

Orientation

minus

Stabilized

minus

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

Make rs1034762(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47995860

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs1034762
dbSNP (classic)	rs1034762
ClinGen	rs1034762
ebi	rs1034762
HLI	rs1034762
Exac	rs1034762
Gnomad	rs1034762
Varsome	rs1034762
LitVar	rs1034762
Map	rs1034762
PheGenI	rs1034762
Biobank	rs1034762
1000 genomes	rs1034762
hgdp	rs1034762
ensembl	rs1034762
geneview	rs1034762
scholar	rs1034762
google	rs1034762
pharmgkb	rs1034762
gwascentral	rs1034762
openSNP	rs1034762
23andMe	rs1034762
SNPshot	rs1034762
SNPdbe	rs1034762
MSV3d	rs1034762
GWAS Ctlg	rs1034762

GMAF

0.2994

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

[PMID 19387081] COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus

ClinVar
Risk	Rs1034762(G;G)
Alt	Rs1034762(G;G)
Reference	Rs1034762(T;T)
Significance	Probable-non-pathogenic
Disease	not specified Stickler Syndrome Type II Collagenopathies
Variation	info
Gene	COL2A1
CLNDBN	not specified Stickler Syndrome, Dominant Type II Collagenopathies
Reversed	1
HGVS	NC_000012.11:g.48389643A>C
CLNSRC
CLNACC	RCV000248143.2, RCV000308476.1, RCV000342215.1,