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rs1057517725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057517725(AT;AT)
Make rs1057517725(AT;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48576537
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517725
dbSNP (old)rs1057517725
ClinGenrs1057517725
ebirs1057517725
HLIrs1057517725
Exacrs1057517725
Gnomadrs1057517725
Varsomers1057517725
Maprs1057517725
PheGenIrs1057517725
Biobankrs1057517725
1000 genomesrs1057517725
hgdprs1057517725
ensemblrs1057517725
gopubmedrs1057517725
geneviewrs1057517725
scholarrs1057517725
googlers1057517725
pharmgkbrs1057517725
gwascentralrs1057517725
openSNPrs1057517725
23andMers1057517725
23andMe allrs1057517725
SNPshotrs1057517725
SNPdbers1057517725
MSV3drs1057517725
GWAS Ctlgrs1057517725
Max Magnitude0
ClinVar
Risk rs1057517725(AT;AT)
Alt rs1057517725(AT;AT)
Reference Rs1057517725(GA;GA)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48613970_48613971delTCinsAT
CLNSRC
CLNACC RCV000413574.1,