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rs1057517721

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517721(-;-)
Make rs1057517721(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48581588
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517721
dbSNP (old)rs1057517721
ClinGenrs1057517721
ebirs1057517721
HLIrs1057517721
Exacrs1057517721
Gnomadrs1057517721
Varsomers1057517721
Maprs1057517721
PheGenIrs1057517721
Biobankrs1057517721
1000 genomesrs1057517721
hgdprs1057517721
ensemblrs1057517721
gopubmedrs1057517721
geneviewrs1057517721
scholarrs1057517721
googlers1057517721
pharmgkbrs1057517721
gwascentralrs1057517721
openSNPrs1057517721
23andMers1057517721
23andMe allrs1057517721
SNPshotrs1057517721
SNPdbers1057517721
MSV3drs1057517721
GWAS Ctlgrs1057517721
Max Magnitude0
ClinVar
Risk rs1057517721(-;-)
Alt rs1057517721(-;-)
Reference Rs1057517721(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48619021delT
CLNSRC
CLNACC RCV000414689.1,