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rs794726676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726676(-;-)
Make rs794726676(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75755762
GeneITGB4
is asnp
is mentioned by
dbSNPrs794726676
dbSNP (classic)rs794726676
ClinGenrs794726676
ebirs794726676
HLIrs794726676
Exacrs794726676
Gnomadrs794726676
Varsomers794726676
LitVarrs794726676
Maprs794726676
PheGenIrs794726676
Biobankrs794726676
1000 genomesrs794726676
hgdprs794726676
ensemblrs794726676
geneviewrs794726676
scholarrs794726676
googlers794726676
pharmgkbrs794726676
gwascentralrs794726676
openSNPrs794726676
23andMers794726676
SNPshotrs794726676
SNPdbers794726676
MSV3drs794726676
GWAS Ctlgrs794726676
Max Magnitude0
ClinVar
Risk rs794726676(-;-)
Alt rs794726676(-;-)
Reference Rs794726676(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa junctionalis with pyloric atresia
Variation info
Gene ITGB4
CLNDBN Epidermolysis bullosa junctionalis with pyloric atresia
Reversed 0
HGVS NC_000017.10:g.73751843delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015852.26,