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rs730880023

From SNPedia

Orientationplus
Geno Mag Summary
(TAAGG;TAAGG) 0 common in clinvar
Make rs730880023(-;-)
Make rs730880023(-;TAAGG)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position7577039
GeneDSP
is asnp
is mentioned by
dbSNPrs730880023
ebirs730880023
HLIrs730880023
Exacrs730880023
Varsomers730880023
Maprs730880023
PheGenIrs730880023
hapmaprs730880023
1000 genomesrs730880023
hgdprs730880023
ensemblrs730880023
gopubmedrs730880023
geneviewrs730880023
scholarrs730880023
googlers730880023
pharmgkbrs730880023
gwascentralrs730880023
openSNPrs730880023
23andMers730880023
23andMe allrs730880023
SNP Nexus

SNPshotrs730880023
SNPdbers730880023
MSV3drs730880023
GWAS Ctlgrs730880023
Max Magnitude0
ClinVar
Risk rs730880023(;)
Alt rs730880023(;)
Reference rs730880023(TAAGG;TAAGG)
Significance Pathogenic
Disease Epidermolysis bullosa
Variation info
Gene DSP
CLNDBN Epidermolysis bullosa, lethal acantholytic
Reversed 0
HGVS NC_000006.11:g.7577272_7577276delTAAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000157032.2,