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rs1057520717

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520717(A;A)
Make rs1057520717(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position46122159
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1057520717
dbSNP (old)rs1057520717
ClinGenrs1057520717
ebirs1057520717
HLIrs1057520717
Exacrs1057520717
Gnomadrs1057520717
Varsomers1057520717
Maprs1057520717
PheGenIrs1057520717
Biobankrs1057520717
1000 genomesrs1057520717
hgdprs1057520717
ensemblrs1057520717
gopubmedrs1057520717
geneviewrs1057520717
scholarrs1057520717
googlers1057520717
pharmgkbrs1057520717
gwascentralrs1057520717
openSNPrs1057520717
23andMers1057520717
23andMe allrs1057520717
SNPshotrs1057520717
SNPdbers1057520717
MSV3drs1057520717
GWAS Ctlgrs1057520717
Max Magnitude0
ClinVar
Risk rs1057520717(A;A)
Alt rs1057520717(A;A)
Reference Rs1057520717(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL6A2
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47542073G>A
CLNSRC
CLNACC RCV000423788.1,