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rs6453373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs6453373(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78129204
GeneAP3B1
is asnp
is mentioned by
dbSNPrs6453373
ebirs6453373
HLIrs6453373
Exacrs6453373
Varsomers6453373
Maprs6453373
PheGenIrs6453373
hapmaprs6453373
1000 genomesrs6453373
hgdprs6453373
ensemblrs6453373
gopubmedrs6453373
geneviewrs6453373
scholarrs6453373
googlers6453373
pharmgkbrs6453373
gwascentralrs6453373
openSNPrs6453373
23andMers6453373
23andMe allrs6453373
SNP Nexus

SNPshotrs6453373
SNPdbers6453373
MSV3drs6453373
GWAS Ctlgrs6453373
GMAF0.1864
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene AP3B1
allele T
frequency 0.925
sift TOLERATED
HuRef 1103654140010
Disease Association Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome 2 (HPS2) (MIM:608233, 203300). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.



GET Evidence
AP3B1-V585E
aa_change Val585Glu
aa_change_short V585E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.931865
summary



ClinVar
Risk rs6453373(T;T)
Alt rs6453373(T;T)
Reference rs6453373(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene AP3B1
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.77425028A>T
CLNSRC
CLNACC RCV000150163.1,