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rs142566193

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142566193(A;A)
Make rs142566193(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position48566303
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs142566193
ebirs142566193
HLIrs142566193
Exacrs142566193
Varsomers142566193
Maprs142566193
PheGenIrs142566193
hapmaprs142566193
1000 genomesrs142566193
hgdprs142566193
ensemblrs142566193
gopubmedrs142566193
geneviewrs142566193
scholarrs142566193
googlers142566193
pharmgkbrs142566193
gwascentralrs142566193
openSNPrs142566193
23andMers142566193
23andMe allrs142566193
SNP Nexus

SNPshotrs142566193
SNPdbers142566193
MSV3drs142566193
GWAS Ctlgrs142566193
Max Magnitude0
ClinVar
Risk rs142566193(A;A)
Alt rs142566193(A;A)
Reference rs142566193(G;G)
Significance Probable-Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 0
HGVS NC_000003.11:g.48603736G>A
CLNSRC
CLNACC RCV000193478.1,