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rs147222357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147222357(A;A)
Make rs147222357(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75751112
GeneITGB4
is asnp
is mentioned by
dbSNPrs147222357
dbSNP (old)rs147222357
ClinGenrs147222357
ebirs147222357
HLIrs147222357
Exacrs147222357
Gnomadrs147222357
Varsomers147222357
Maprs147222357
PheGenIrs147222357
Biobankrs147222357
1000 genomesrs147222357
hgdprs147222357
ensemblrs147222357
gopubmedrs147222357
geneviewrs147222357
scholarrs147222357
googlers147222357
pharmgkbrs147222357
gwascentralrs147222357
openSNPrs147222357
23andMers147222357
23andMe allrs147222357
SNP Nexus

SNPshotrs147222357
SNPdbers147222357
MSV3drs147222357
GWAS Ctlgrs147222357
Max Magnitude0
ClinVar
Risk rs147222357(A;A) rs147222357(T;T)
Alt rs147222357(A;A) rs147222357(T;T)
Reference Rs147222357(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa junctionalis with pyloric atresia not provided
Variation info
Gene ITGB4
CLNDBN Epidermolysis bullosa junctionalis with pyloric atresia not provided
Reversed 0
HGVS NC_000017.10:g.73747193G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015857.26, RCV000255841.1,