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rs1064797082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome3
Position48581288
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1064797082
dbSNP (old)rs1064797082
ClinGenrs1064797082
ebirs1064797082
HLIrs1064797082
Exacrs1064797082
Gnomadrs1064797082
Varsomers1064797082
Maprs1064797082
PheGenIrs1064797082
Biobankrs1064797082
1000 genomesrs1064797082
hgdprs1064797082
ensemblrs1064797082
gopubmedrs1064797082
geneviewrs1064797082
scholarrs1064797082
googlers1064797082
pharmgkbrs1064797082
gwascentralrs1064797082
openSNPrs1064797082
23andMers1064797082
23andMe allrs1064797082
SNPshotrs1064797082
SNPdbers1064797082
MSV3drs1064797082
GWAS Ctlgrs1064797082
Max Magnitude0
ClinVar
Risk rs1064797082(-;-)
Alt rs1064797082(-;-)
Reference Rs1064797082(C;C)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48618721delG
CLNSRC
CLNACC RCV000487428.1,