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rs12077871

From SNPedia

Orientationplus
Stabilizedplus
Make rs12077871(A;A)
Make rs12077871(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40307478
GeneCOL9A2
is asnp
is mentioned by
dbSNPrs12077871
dbSNP (classic)rs12077871
ClinGenrs12077871
ebirs12077871
HLIrs12077871
Exacrs12077871
Gnomadrs12077871
Varsomers12077871
LitVarrs12077871
Maprs12077871
PheGenIrs12077871
Biobankrs12077871
1000 genomesrs12077871
hgdprs12077871
ensemblrs12077871
geneviewrs12077871
scholarrs12077871
googlers12077871
pharmgkbrs12077871
gwascentralrs12077871
openSNPrs12077871
23andMers12077871
SNPshotrs12077871
SNPdbers12077871
MSV3drs12077871
GWAS Ctlgrs12077871
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 24983932] Meta-Analysis of the Association Between COL9A2 Genetic Polymorphisms and Lumbar Disc Disease Susceptibility


ClinVar
Risk rs12077871(A;A) rs12077871(T;T)
Alt rs12077871(A;A) rs12077871(T;T)
Reference Rs12077871(G;G)
Significance Probable-non-pathogenic
Disease not specified Stickler Syndrome Multiple Epiphyseal Dysplasia
Variation info
Gene COL9A2
CLNDBN not specified Stickler Syndrome, Recessive Multiple Epiphyseal Dysplasia, Dominant
Reversed 0
HGVS NC_000001.10:g.40773150G>A
CLNSRC
CLNACC RCV000243675.1, RCV000338210.1, RCV000393485.1,