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rs863223491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223491(A;A)
Make rs863223491(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position189062865
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs863223491
dbSNP (classic)rs863223491
ClinGenrs863223491
ebirs863223491
HLIrs863223491
Exacrs863223491
Gnomadrs863223491
Varsomers863223491
LitVarrs863223491
Maprs863223491
PheGenIrs863223491
Biobankrs863223491
1000 genomesrs863223491
hgdprs863223491
ensemblrs863223491
geneviewrs863223491
scholarrs863223491
googlers863223491
pharmgkbrs863223491
gwascentralrs863223491
openSNPrs863223491
23andMers863223491
SNPshotrs863223491
SNPdbers863223491
MSV3drs863223491
GWAS Ctlgrs863223491
Max Magnitude0
ClinVar
Risk rs863223491(A;A)
Alt rs863223491(A;A)
Reference Rs863223491(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL5A2
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.189927591C>T
CLNSRC
CLNACC RCV000198351.1,