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rs1064797079

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome3
Position48588988
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1064797079
dbSNP (old)rs1064797079
ClinGenrs1064797079
ebirs1064797079
HLIrs1064797079
Exacrs1064797079
Gnomadrs1064797079
Varsomers1064797079
Maprs1064797079
PheGenIrs1064797079
Biobankrs1064797079
1000 genomesrs1064797079
hgdprs1064797079
ensemblrs1064797079
gopubmedrs1064797079
geneviewrs1064797079
scholarrs1064797079
googlers1064797079
pharmgkbrs1064797079
gwascentralrs1064797079
openSNPrs1064797079
23andMers1064797079
23andMe allrs1064797079
SNPshotrs1064797079
SNPdbers1064797079
MSV3drs1064797079
GWAS Ctlgrs1064797079
Max Magnitude0
ClinVar
Risk rs1064797079(CTGA;CTGA)
Alt rs1064797079(CTGA;CTGA)
Reference Rs1064797079(-;-)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48626421_48626422insTCAG
CLNSRC
CLNACC RCV000487456.1,