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: rs952178
rs952178
LINC02492 ; LOC105377604
1 1.000 0.080 4 187604743 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2018 2018
dbSNP: rs11101722
rs11101722 		1 1.000 0.080 10 133376925 upstream gene variant T/C snv 8.0E-03 0.700 1.000 1 2010 2010
dbSNP: rs3126184
rs3126184 		2 0.925 0.080 14 49905817 upstream gene variant T/C snv 0.87 0.010 1.000 1 2015 2015
dbSNP: rs835576
rs835576
NOTCH2
2 0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0