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rs6910140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs6910140(C;C)
Make rs6910140(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position70234554
GeneCOL9A1
is asnp
is mentioned by
dbSNPrs6910140
dbSNP (classic)rs6910140
ClinGenrs6910140
ebirs6910140
HLIrs6910140
Exacrs6910140
Gnomadrs6910140
Varsomers6910140
LitVarrs6910140
Maprs6910140
PheGenIrs6910140
Biobankrs6910140
1000 genomesrs6910140
hgdprs6910140
ensemblrs6910140
geneviewrs6910140
scholarrs6910140
googlers6910140
pharmgkbrs6910140
gwascentralrs6910140
openSNPrs6910140
23andMers6910140
SNPshotrs6910140
SNPdbers6910140
MSV3drs6910140
GWAS Ctlgrs6910140
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 25774918OA-icon.png] COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population


ClinVar
Risk rs6910140(C;C) rs6910140(G;G)
Alt rs6910140(C;C) rs6910140(G;G)
Reference Rs6910140(T;T)
Significance Probable-non-pathogenic
Disease not specified Multiple Epiphyseal Dysplasia Stickler Syndrome
Variation info
Gene COL9A1
CLNDBN not specified Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome, Recessive
Reversed 0
HGVS NC_000006.11:g.70944257T>C
CLNSRC
CLNACC RCV000251679.2, RCV000270277.1, RCV000360320.1,