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: rs1043526
rs1043526
PIK3R1
1 1.000 0.080 5 68298496 3 prime UTR variant A/G snv 9.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs2302975
rs2302975
PIK3R1
1 1.000 0.080 5 68273651 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs244465
rs244465 		1 1.000 0.080 5 143266338 intergenic variant T/C snv 0.89 0.010 1.000 1 2011 2011
dbSNP: rs279845
rs279845
GABRA2
2 1.000 0.080 4 46327706 intron variant T/A snv 0.41 0.010 1.000 1 2019 2019