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rs1057518693

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518693(C;C)
Make rs1057518693(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position62821532
GeneCOL9A3
is asnp
is mentioned by
dbSNPrs1057518693
dbSNP (old)rs1057518693
ClinGenrs1057518693
ebirs1057518693
HLIrs1057518693
Exacrs1057518693
Gnomadrs1057518693
Varsomers1057518693
Maprs1057518693
PheGenIrs1057518693
Biobankrs1057518693
1000 genomesrs1057518693
hgdprs1057518693
ensemblrs1057518693
gopubmedrs1057518693
geneviewrs1057518693
scholarrs1057518693
googlers1057518693
pharmgkbrs1057518693
gwascentralrs1057518693
openSNPrs1057518693
23andMers1057518693
23andMe allrs1057518693
SNPshotrs1057518693
SNPdbers1057518693
MSV3drs1057518693
GWAS Ctlgrs1057518693
Max Magnitude0
ClinVar
Risk rs1057518693(C;C)
Alt rs1057518693(C;C)
Reference Rs1057518693(T;T)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 3
Variation info
Gene COL9A3
CLNDBN Multiple epiphyseal dysplasia 3
Reversed 0
HGVS NC_000020.10:g.61452884T>C
CLNSRC
CLNACC RCV000415238.1,