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: rs369488804
rs369488804
POLDIP2 ; TMEM199
1 1.000 17 28357690 missense variant C/A;G;T snv 4.0E-06; 8.9E-05 0.800 1.000 1 2016 2016
dbSNP: rs782531869
rs782531869
POLDIP2 ; TMEM199
1 1.000 17 28357762 missense variant G/C snv 4.0E-05 5.6E-05 0.800 1.000 1 2016 2016
dbSNP: rs869025586
rs869025586
POLDIP2 ; TMEM199
1 1.000 17 28357710 missense variant G/C snv 0.800 0
dbSNP: rs869025587
rs869025587
TMEM199 ; MIR4723
1 1.000 17 28360528 splice acceptor variant G/A snv 0.700 0