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rs871443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs871443(C;C)
Make rs871443(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75757422
GeneITGB4
is asnp
is mentioned by
dbSNPrs871443
dbSNP (old)rs871443
ClinGenrs871443
ebirs871443
HLIrs871443
Exacrs871443
Gnomadrs871443
Varsomers871443
Maprs871443
PheGenIrs871443
Biobankrs871443
1000 genomesrs871443
hgdprs871443
ensemblrs871443
gopubmedrs871443
geneviewrs871443
scholarrs871443
googlers871443
pharmgkbrs871443
gwascentralrs871443
openSNPrs871443
23andMers871443
23andMe allrs871443
SNP Nexus

SNPshotrs871443
SNPdbers871443
MSV3drs871443
GWAS Ctlgrs871443
GMAF0.4114
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ITGB4
allele C
frequency 0.25
sift TOLERATED
HuRef 1103645382586
Disease Association Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) (MIM:226650). This nonlethal form of junctional epidermolysis bullosa is characterized by life- long blistering of the skin, associated with hair and tooth abnormalities.



Neighborrs743554
Distance745


GET Evidence
ITGB4-L1779P
aa_change Leu1779Pro
aa_change_short L1779P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.604147
summary



[PMID 23617461] Role of beta4 integrin in HER-3-negative, K-RAS wild-type metastatic colorectal tumors receiving cetuximab.


ClinVar
Risk rs871443(C;C) rs871443(G;G)
Alt rs871443(C;C) rs871443(G;G)
Reference Rs871443(T;T)
Significance Non-pathogenic
Disease not specified Epidermolysis bullosa junctionalis with pyloric atresia Deficiency of galactokinase
Variation info
Gene ITGB4
CLNDBN not specified Epidermolysis bullosa junctionalis with pyloric atresia Deficiency of galactokinase
Reversed 0
HGVS NC_000017.10:g.73753503T>C
CLNSRC
CLNACC RCV000247515.1, RCV000294224.1, RCV000322321.1,