Gene: ARPIN-AP3S2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2028299
rs2028299
AP3S2 ; ARPIN-AP3S2
2 0.925 0.120 15 89831025 3 prime UTR variant C/A snv 0.72 0.820 1.000 6 2011 2018
dbSNP: rs11435035
rs11435035
AP3S2 ; ARPIN-AP3S2 ; MIR5094
1 1.000 0.080 15 89850718 non coding transcript exon variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs8031576
rs8031576
AP3S2 ; ARPIN-AP3S2
1 1.000 0.080 15 89836982 intron variant C/A;T snv 0.71 0.700 1.000 1 2019 2019