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rs730880285

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880285(C;C)
Make rs730880285(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position48580881
GeneCOL7A1, MIR711
is asnp
is mentioned by
dbSNPrs730880285
ebirs730880285
HLIrs730880285
Exacrs730880285
Varsomers730880285
Maprs730880285
PheGenIrs730880285
hapmaprs730880285
1000 genomesrs730880285
hgdprs730880285
ensemblrs730880285
gopubmedrs730880285
geneviewrs730880285
scholarrs730880285
googlers730880285
pharmgkbrs730880285
gwascentralrs730880285
openSNPrs730880285
23andMers730880285
23andMe allrs730880285
SNP Nexus

SNPshotrs730880285
SNPdbers730880285
MSV3drs730880285
GWAS Ctlgrs730880285
Max Magnitude0
ClinVar
Risk rs730880285(C;C)
Alt rs730880285(C;C)
Reference rs730880285(G;G)
Significance Probable-Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene MIR711 COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48618314C>G
CLNSRC
CLNACC RCV000157650.1,