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: rs1057519441
rs1057519441
GUCY2C ; C12orf60
4 0.925 0.120 12 14683243 missense variant A/G snv 0.700 0
dbSNP: rs137852981
rs137852981
ZEB2
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs886039815
rs886039815
TCTEX1D2
5 0.851 0.320 3 196306939 splice region variant T/A snv 0.700 0
dbSNP: rs1213451480
rs1213451480
NR5A1
2 1.000 0.120 9 124500652 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2003 2003