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: rs147579680
rs147579680
DPY19L2
1 1.000 12 63624124 missense variant C/T snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs587777205
rs587777205
DPY19L2
1 1.000 12 63569312 stop gained T/A;G snv 3.7E-05; 1.7E-04 0.700 0
dbSNP: rs587777206
rs587777206
DPY19L2
1 1.000 12 63624101 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs751879424
rs751879424
DPY19L2
1 1.000 12 63617339 frameshift variant A/- del 2.1E-05 0.700 0
dbSNP: rs868256749
rs868256749
DPY19L2
1 1.000 12 63617303 splice donor variant C/T snv 0.700 0