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: rs761885185
rs761885185
TP63
3 0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06 0.020 1.000 2 2004 2011