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rs730880024

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880024(-;-)
Make rs730880024(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position7584510
GeneDSP
is asnp
is mentioned by
dbSNPrs730880024
ebirs730880024
HLIrs730880024
Exacrs730880024
Varsomers730880024
Maprs730880024
PheGenIrs730880024
hapmaprs730880024
1000 genomesrs730880024
hgdprs730880024
ensemblrs730880024
gopubmedrs730880024
geneviewrs730880024
scholarrs730880024
googlers730880024
pharmgkbrs730880024
gwascentralrs730880024
openSNPrs730880024
23andMers730880024
23andMe allrs730880024
SNP Nexus

SNPshotrs730880024
SNPdbers730880024
MSV3drs730880024
GWAS Ctlgrs730880024
Max Magnitude0
ClinVar
Risk rs730880024(;)
Alt rs730880024(;)
Reference rs730880024(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa
Variation info
Gene DSP
CLNDBN Epidermolysis bullosa, lethal acantholytic
Reversed 0
HGVS NC_000006.11:g.7584743delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000157033.3,