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: rs1426488816
rs1426488816
PLAA
9 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs121908848
rs121908848
TP63
2 0.925 0.080 3 189738739 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs398122527
rs398122527
DLX5
3 0.882 0.080 7 97021048 missense variant C/A snv 0.010 1.000 1 2016 2016