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rs1057518139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs1057518139(-;-)
Make rs1057518139(-;AAG)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position47981776
GeneCOL2A1, LOC105369752
is asnp
is mentioned by
dbSNPrs1057518139
dbSNP (old)rs1057518139
ClinGenrs1057518139
ebirs1057518139
HLIrs1057518139
Exacrs1057518139
Gnomadrs1057518139
Varsomers1057518139
LitVarrs1057518139
Maprs1057518139
PheGenIrs1057518139
Biobankrs1057518139
1000 genomesrs1057518139
hgdprs1057518139
ensemblrs1057518139
gopubmedrs1057518139
geneviewrs1057518139
scholarrs1057518139
googlers1057518139
pharmgkbrs1057518139
gwascentralrs1057518139
openSNPrs1057518139
23andMers1057518139
23andMe allrs1057518139
SNPshotrs1057518139
SNPdbers1057518139
MSV3drs1057518139
GWAS Ctlgrs1057518139
Max Magnitude0
ClinVar
Risk rs1057518139(-;-)
Alt rs1057518139(-;-)
Reference Rs1057518139(AAG;AAG)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL2A1
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.48375559_48375561delCTT
CLNSRC
CLNACC RCV000414483.1,