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rs1064795685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Chromosome21
Position46125853
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1064795685
dbSNP (classic)rs1064795685
ClinGenrs1064795685
ebirs1064795685
HLIrs1064795685
Exacrs1064795685
Gnomadrs1064795685
Varsomers1064795685
LitVarrs1064795685
Maprs1064795685
PheGenIrs1064795685
Biobankrs1064795685
1000 genomesrs1064795685
hgdprs1064795685
ensemblrs1064795685
geneviewrs1064795685
scholarrs1064795685
googlers1064795685
pharmgkbrs1064795685
gwascentralrs1064795685
openSNPrs1064795685
23andMers1064795685
SNPshotrs1064795685
SNPdbers1064795685
MSV3drs1064795685
GWAS Ctlgrs1064795685
Max Magnitude0
ClinVar
Risk rs1064795685(A;A)
Alt rs1064795685(A;A)
Reference Rs1064795685(CG;CG)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL6A2
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47545767_47545768delCGinsA
CLNSRC
CLNACC RCV000479621.1,