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rs1057519174

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519174(A;G)
Make rs1057519174(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position45989750
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs1057519174
dbSNP (old)rs1057519174
ClinGenrs1057519174
ebirs1057519174
HLIrs1057519174
Exacrs1057519174
Gnomadrs1057519174
Varsomers1057519174
Maprs1057519174
PheGenIrs1057519174
Biobankrs1057519174
1000 genomesrs1057519174
hgdprs1057519174
ensemblrs1057519174
gopubmedrs1057519174
geneviewrs1057519174
scholarrs1057519174
googlers1057519174
pharmgkbrs1057519174
gwascentralrs1057519174
openSNPrs1057519174
23andMers1057519174
23andMe allrs1057519174
SNPshotrs1057519174
SNPdbers1057519174
MSV3drs1057519174
GWAS Ctlgrs1057519174
Max Magnitude0
ClinVar
Risk rs1057519174(G;G)
Alt rs1057519174(G;G)
Reference Rs1057519174(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL6A1
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47409664A>G
CLNSRC
CLNACC RCV000416072.1,