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rs730880286

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880286(-;-)
Make rs730880286(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position48586378
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs730880286
ebirs730880286
HLIrs730880286
Exacrs730880286
Varsomers730880286
Maprs730880286
PheGenIrs730880286
hapmaprs730880286
1000 genomesrs730880286
hgdprs730880286
ensemblrs730880286
gopubmedrs730880286
geneviewrs730880286
scholarrs730880286
googlers730880286
pharmgkbrs730880286
gwascentralrs730880286
openSNPrs730880286
23andMers730880286
23andMe allrs730880286
SNP Nexus

SNPshotrs730880286
SNPdbers730880286
MSV3drs730880286
GWAS Ctlgrs730880286
Max Magnitude0
ClinVar
Risk rs730880286(;)
Alt rs730880286(;)
Reference rs730880286(C;C)
Significance Probable-Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48623811delG
CLNSRC
CLNACC RCV000157651.1,