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rs1057520530

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520530(C;C)
Make rs1057520530(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48575418
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057520530
dbSNP (old)rs1057520530
ClinGenrs1057520530
ebirs1057520530
HLIrs1057520530
Exacrs1057520530
Gnomadrs1057520530
Varsomers1057520530
Maprs1057520530
PheGenIrs1057520530
Biobankrs1057520530
1000 genomesrs1057520530
hgdprs1057520530
ensemblrs1057520530
gopubmedrs1057520530
geneviewrs1057520530
scholarrs1057520530
googlers1057520530
pharmgkbrs1057520530
gwascentralrs1057520530
openSNPrs1057520530
23andMers1057520530
23andMe allrs1057520530
SNPshotrs1057520530
SNPdbers1057520530
MSV3drs1057520530
GWAS Ctlgrs1057520530
Max Magnitude0
ClinVar
Risk rs1057520530(C;C)
Alt rs1057520530(C;C)
Reference Rs1057520530(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48612851C>G
CLNSRC
CLNACC RCV000440486.1,