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rs1057522053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057522053(A;A)
Make rs1057522053(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position45987501
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs1057522053
dbSNP (classic)rs1057522053
ClinGenrs1057522053
ebirs1057522053
HLIrs1057522053
Exacrs1057522053
Gnomadrs1057522053
Varsomers1057522053
LitVarrs1057522053
Maprs1057522053
PheGenIrs1057522053
Biobankrs1057522053
1000 genomesrs1057522053
hgdprs1057522053
ensemblrs1057522053
geneviewrs1057522053
scholarrs1057522053
googlers1057522053
pharmgkbrs1057522053
gwascentralrs1057522053
openSNPrs1057522053
23andMers1057522053
23andMe allrs1057522053
SNPshotrs1057522053
SNPdbers1057522053
MSV3drs1057522053
GWAS Ctlgrs1057522053
Max Magnitude0
ClinVar
Risk rs1057522053(A;A)
Alt rs1057522053(A;A)
Reference Rs1057522053(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL6A1
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47407415C>A
CLNSRC
CLNACC RCV000427733.1,