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rs1057517726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517726(A;G)
Make rs1057517726(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48575343
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517726
dbSNP (old)rs1057517726
ClinGenrs1057517726
ebirs1057517726
HLIrs1057517726
Exacrs1057517726
Gnomadrs1057517726
Varsomers1057517726
LitVarrs1057517726
Maprs1057517726
PheGenIrs1057517726
Biobankrs1057517726
1000 genomesrs1057517726
hgdprs1057517726
ensemblrs1057517726
gopubmedrs1057517726
geneviewrs1057517726
scholarrs1057517726
googlers1057517726
pharmgkbrs1057517726
gwascentralrs1057517726
openSNPrs1057517726
23andMers1057517726
23andMe allrs1057517726
SNPshotrs1057517726
SNPdbers1057517726
MSV3drs1057517726
GWAS Ctlgrs1057517726
Max Magnitude0
ClinVar
Risk rs1057517726(G;G)
Alt rs1057517726(G;G)
Reference Rs1057517726(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48612776T>C
CLNSRC
CLNACC RCV000413184.1,