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rs11895564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
Make rs11895564(A;A)
Make rs11895564(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position172475080
GeneITGA6, LOC101926931
is asnp
is mentioned by
dbSNPrs11895564
ebirs11895564
HLIrs11895564
Exacrs11895564
Varsomers11895564
Maprs11895564
PheGenIrs11895564
hapmaprs11895564
1000 genomesrs11895564
hgdprs11895564
ensemblrs11895564
gopubmedrs11895564
geneviewrs11895564
scholarrs11895564
googlers11895564
pharmgkbrs11895564
gwascentralrs11895564
openSNPrs11895564
23andMers11895564
23andMe allrs11895564
SNP Nexus

SNPshotrs11895564
SNPdbers11895564
MSV3drs11895564
GWAS Ctlgrs11895564
GMAF0.2383
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ITGA6
allele A
frequency 0.25
sift TOLERATED
HuRef 1103658290695
Disease Association Defects in ITGA6 are a cause of epidermolysis bullosa with pyloric atresia (EB-PA) (MIM:226730); also known as aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive disease characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus.



[PMID 22148122OA-icon.png] A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population


GET Evidence
ITGA6-A380T
aa_change Ala380Thr
aa_change_short A380T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.315858
summary