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rs748459670

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748459670(C;C)
Make rs748459670(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47978015
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs748459670
ebirs748459670
HLIrs748459670
Exacrs748459670
Varsomers748459670
Maprs748459670
PheGenIrs748459670
hapmaprs748459670
1000 genomesrs748459670
hgdprs748459670
ensemblrs748459670
gopubmedrs748459670
geneviewrs748459670
scholarrs748459670
googlers748459670
pharmgkbrs748459670
gwascentralrs748459670
openSNPrs748459670
23andMers748459670
23andMe allrs748459670
SNP Nexus

SNPshotrs748459670
SNPdbers748459670
MSV3drs748459670
GWAS Ctlgrs748459670
Max Magnitude0
ClinVar
Risk rs748459670(A,C;A,C)
Alt rs748459670(A,C;A,C)
Reference rs748459670(G;G)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 0
HGVS NC_000012.11:g.48371798G>A
CLNSRC
CLNACC RCV000178552.1,