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rs397514040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs397514040(-;-)
Make rs397514040(-;TT)
ReferenceGRCh38 38.1/141
Chromosome6
Position7583353
GeneDSP
is asnp
is mentioned by
dbSNPrs397514040
ebirs397514040
HLIrs397514040
Exacrs397514040
Varsomers397514040
Maprs397514040
PheGenIrs397514040
hapmaprs397514040
1000 genomesrs397514040
hgdprs397514040
ensemblrs397514040
gopubmedrs397514040
geneviewrs397514040
scholarrs397514040
googlers397514040
pharmgkbrs397514040
gwascentralrs397514040
openSNPrs397514040
23andMers397514040
23andMe allrs397514040
SNP Nexus

SNPshotrs397514040
SNPdbers397514040
MSV3drs397514040
GWAS Ctlgrs397514040
Max Magnitude0
ClinVar
Risk rs397514040(;)
Alt rs397514040(;)
Reference rs397514040(TT;TT)
Significance Pathogenic
Disease Epidermolysis bullosa
Variation info
Gene DSP
CLNDBN Epidermolysis bullosa, lethal acantholytic
Reversed 0
HGVS NC_000006.11:g.7583586_7583587delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000018338.25,