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rs1034762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
(T;T) 0 common in clinvar
Make rs1034762(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47995860
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs1034762
dbSNP (old)rs1034762
ClinGenrs1034762
ebirs1034762
HLIrs1034762
Exacrs1034762
Gnomadrs1034762
Varsomers1034762
Maprs1034762
PheGenIrs1034762
Biobankrs1034762
1000 genomesrs1034762
hgdprs1034762
ensemblrs1034762
gopubmedrs1034762
geneviewrs1034762
scholarrs1034762
googlers1034762
pharmgkbrs1034762
gwascentralrs1034762
openSNPrs1034762
23andMers1034762
23andMe allrs1034762
SNP Nexus

SNPshotrs1034762
SNPdbers1034762
MSV3drs1034762
GWAS Ctlgrs1034762
GMAF0.2994
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 19387081OA-icon.png] 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,