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: rs279858
rs279858
GABRA2
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2008 2008
dbSNP: rs1800759
rs1800759
ADH4 ; LOC100507053
4 0.925 0.120 4 99144358 intron variant T/G snv 0.49 0.010 1.000 1 2006 2006
dbSNP: rs1047383
rs1047383
PLCB1
1 20 8884359 3 prime UTR variant C/T snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1650420
rs1650420
GRIN2A
2 1.000 0.080 16 10174473 intron variant T/C snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs13438494
rs13438494
PCLO
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1126671
rs1126671
ADH4 ; LOC100507053
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005