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rs143457874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
(G;G) 0 common in clinvar


Make rs143457874(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position48565636
GeneCOL7A1, UCN2
is asnp
is mentioned by
dbSNPrs143457874
dbSNP (old)rs143457874
ClinGenrs143457874
ebirs143457874
HLIrs143457874
Exacrs143457874
Gnomadrs143457874
Varsomers143457874
LitVarrs143457874
Maprs143457874
PheGenIrs143457874
Biobankrs143457874
1000 genomesrs143457874
hgdprs143457874
ensemblrs143457874
gopubmedrs143457874
geneviewrs143457874
scholarrs143457874
googlers143457874
pharmgkbrs143457874
gwascentralrs143457874
openSNPrs143457874
23andMers143457874
23andMe allrs143457874
SNPshotrs143457874
SNPdbers143457874
MSV3drs143457874
GWAS Ctlgrs143457874
Max Magnitude3
ClinVar
Risk rs143457874(A;A)
Alt rs143457874(A;A)
Reference Rs143457874(G;G)
Significance Pathogenic
Disease not provided Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1 UCN2
CLNDBN not provided Recessive dystrophic epidermolysis bullosa
Reversed 0
HGVS NC_000003.11:g.48603069G>A
CLNSRC
CLNACC RCV000255944.1, RCV000269116.1,