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rs80338755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338755(A;A)
Make rs80338755(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75727423
GeneITGB4
is asnp
is mentioned by
dbSNPrs80338755
ebirs80338755
HLIrs80338755
Exacrs80338755
Varsomers80338755
Maprs80338755
PheGenIrs80338755
hapmaprs80338755
1000 genomesrs80338755
hgdprs80338755
ensemblrs80338755
gopubmedrs80338755
geneviewrs80338755
scholarrs80338755
googlers80338755
pharmgkbrs80338755
gwascentralrs80338755
openSNPrs80338755
23andMers80338755
23andMe allrs80338755
SNP Nexus

SNPshotrs80338755
SNPdbers80338755
MSV3drs80338755
GWAS Ctlgrs80338755
GMAF0.0004591
Max Magnitude0
OMIM147557
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338755(A;A)
Alt rs80338755(A;A)
Reference rs80338755(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa with pyloric atresia
Variation info
Gene ITGB4
CLNDBN Epidermolysis bullosa with pyloric atresia
Reversed 0
HGVS NC_000017.10:g.73723504G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015855.26,


[PMID 9792864OA-icon.png] Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

[PMID 16473856OA-icon.png] Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.