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: rs1565799131
rs1565799131
LEMD3
1 1.000 0.120 12 65238694 stop gained G/T snv 0.700 1.000 1 2006 2006
dbSNP: rs267607216
rs267607216
LEMD3
4 0.851 0.120 12 65245931 stop gained G/A snv 0.700 0
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2018 2018