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rs1064793394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Chromosome21
Position46132007
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1064793394
dbSNP (old)rs1064793394
ClinGenrs1064793394
ebirs1064793394
HLIrs1064793394
Exacrs1064793394
Gnomadrs1064793394
Varsomers1064793394
Maprs1064793394
PheGenIrs1064793394
Biobankrs1064793394
1000 genomesrs1064793394
hgdprs1064793394
ensemblrs1064793394
gopubmedrs1064793394
geneviewrs1064793394
scholarrs1064793394
googlers1064793394
pharmgkbrs1064793394
gwascentralrs1064793394
openSNPrs1064793394
23andMers1064793394
23andMe allrs1064793394
SNPshotrs1064793394
SNPdbers1064793394
MSV3drs1064793394
GWAS Ctlgrs1064793394
Max Magnitude0
ClinVar
Risk rs1064793394(-;-)
Alt rs1064793394(-;-)
Reference Rs1064793394(GA;GA)
Significance Pathogenic
Disease not provided
Variation info
Gene COL6A2
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47551921_47551922delGA
CLNSRC
CLNACC RCV000479648.1,