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rs1064797081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome3
Position48566686
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1064797081
dbSNP (classic)rs1064797081
ClinGenrs1064797081
ebirs1064797081
HLIrs1064797081
Exacrs1064797081
Gnomadrs1064797081
Varsomers1064797081
LitVarrs1064797081
Maprs1064797081
PheGenIrs1064797081
Biobankrs1064797081
1000 genomesrs1064797081
hgdprs1064797081
ensemblrs1064797081
geneviewrs1064797081
scholarrs1064797081
googlers1064797081
pharmgkbrs1064797081
gwascentralrs1064797081
openSNPrs1064797081
23andMers1064797081
23andMe allrs1064797081
SNPshotrs1064797081
SNPdbers1064797081
MSV3drs1064797081
GWAS Ctlgrs1064797081
Max Magnitude0
ClinVar
Risk rs1064797081(A;A)
Alt rs1064797081(A;A)
Reference Rs1064797081(G;G)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48604119C>T
CLNSRC
CLNACC RCV000487447.1,