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rs2272495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
Make rs2272495(C;C)
Make rs2272495(C;T)
Make rs2272495(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position105190099
GeneAPPL2
is asnp
is mentioned by
dbSNPrs2272495
ebirs2272495
HLIrs2272495
Exacrs2272495
Varsomers2272495
Maprs2272495
PheGenIrs2272495
hapmaprs2272495
1000 genomesrs2272495
hgdprs2272495
ensemblrs2272495
gopubmedrs2272495
geneviewrs2272495
scholarrs2272495
googlers2272495
pharmgkbrs2272495
gwascentralrs2272495
openSNPrs2272495
23andMers2272495
23andMe allrs2272495
SNP Nexus

SNPshotrs2272495
SNPdbers2272495
MSV3drs2272495
GWAS Ctlgrs2272495
GMAF0.1915
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene DP13B_HUMAN
allele A
frequency 0.175
sift TOLERATED
HuRef 1103649529508
Disease Association A chromosomal aberration involving DIP13B/APPL2 is a cause of the chromosome 22q13.3 deletion syndrome (MIM:606232). Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2.



GET Evidence
APPL2-A433V
aa_change Ala433Val
aa_change_short A433V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.166233
summary