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rs1057518706

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518706(A;G)
Make rs1057518706(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48572667
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057518706
dbSNP (old)rs1057518706
ClinGenrs1057518706
ebirs1057518706
HLIrs1057518706
Exacrs1057518706
Gnomadrs1057518706
Varsomers1057518706
Maprs1057518706
PheGenIrs1057518706
Biobankrs1057518706
1000 genomesrs1057518706
hgdprs1057518706
ensemblrs1057518706
gopubmedrs1057518706
geneviewrs1057518706
scholarrs1057518706
googlers1057518706
pharmgkbrs1057518706
gwascentralrs1057518706
openSNPrs1057518706
23andMers1057518706
23andMe allrs1057518706
SNPshotrs1057518706
SNPdbers1057518706
MSV3drs1057518706
GWAS Ctlgrs1057518706
Max Magnitude0
ClinVar
Risk rs1057518706(G;G)
Alt rs1057518706(G;G)
Reference Rs1057518706(A;A)
Significance Pathogenic
Disease Generalized dominant dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Generalized dominant dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48610100T>C
CLNSRC
CLNACC RCV000415126.1,