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: rs1251778848
rs1251778848
KMT2D
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs863223330
rs863223330
SIX1 ; MIR9718
8 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
dbSNP: rs797044960
rs797044960
SIX1 ; MIR9718
3 0.925 0.200 14 60648817 missense variant C/T snv 0.010 1.000 1 2011 2011