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rs1064797078

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome3
Position48595159
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1064797078
dbSNP (old)rs1064797078
ClinGenrs1064797078
ebirs1064797078
HLIrs1064797078
Exacrs1064797078
Gnomadrs1064797078
Varsomers1064797078
Maprs1064797078
PheGenIrs1064797078
Biobankrs1064797078
1000 genomesrs1064797078
hgdprs1064797078
ensemblrs1064797078
gopubmedrs1064797078
geneviewrs1064797078
scholarrs1064797078
googlers1064797078
pharmgkbrs1064797078
gwascentralrs1064797078
openSNPrs1064797078
23andMers1064797078
23andMe allrs1064797078
SNPshotrs1064797078
SNPdbers1064797078
MSV3drs1064797078
GWAS Ctlgrs1064797078
Max Magnitude0
ClinVar
Risk rs1064797078(G;G)
Alt rs1064797078(G;G)
Reference Rs1064797078(A;A)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48632592T>C
CLNSRC
CLNACC RCV000487444.1,