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rs1057520625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520625(G;T)
Make rs1057520625(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position45990284
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs1057520625
dbSNP (old)rs1057520625
ClinGenrs1057520625
ebirs1057520625
HLIrs1057520625
Exacrs1057520625
Gnomadrs1057520625
Varsomers1057520625
Maprs1057520625
PheGenIrs1057520625
Biobankrs1057520625
1000 genomesrs1057520625
hgdprs1057520625
ensemblrs1057520625
gopubmedrs1057520625
geneviewrs1057520625
scholarrs1057520625
googlers1057520625
pharmgkbrs1057520625
gwascentralrs1057520625
openSNPrs1057520625
23andMers1057520625
23andMe allrs1057520625
SNPshotrs1057520625
SNPdbers1057520625
MSV3drs1057520625
GWAS Ctlgrs1057520625
Max Magnitude0
ClinVar
Risk rs1057520625(T;T)
Alt rs1057520625(T;T)
Reference Rs1057520625(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL6A1
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47410198G>T
CLNSRC
CLNACC RCV000435018.1,