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rs1064797080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACG;AACG) 0 common in clinvar
Chromosome3
Position48575678
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1064797080
dbSNP (old)rs1064797080
ClinGenrs1064797080
ebirs1064797080
HLIrs1064797080
Exacrs1064797080
Gnomadrs1064797080
Varsomers1064797080
Maprs1064797080
PheGenIrs1064797080
Biobankrs1064797080
1000 genomesrs1064797080
hgdprs1064797080
ensemblrs1064797080
gopubmedrs1064797080
geneviewrs1064797080
scholarrs1064797080
googlers1064797080
pharmgkbrs1064797080
gwascentralrs1064797080
openSNPrs1064797080
23andMers1064797080
23andMe allrs1064797080
SNPshotrs1064797080
SNPdbers1064797080
MSV3drs1064797080
GWAS Ctlgrs1064797080
Max Magnitude0
ClinVar
Risk rs1064797080(-;-)
Alt rs1064797080(-;-)
Reference Rs1064797080(AACG;AACG)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48613111_48613114delCGTT
CLNSRC
CLNACC RCV000487435.1,