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: rs9896052
rs9896052 		3 0.882 0.160 17 75422781 intergenic variant A/C snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs9894220
rs9894220
UBE2Z
1 1.000 0.080 17 48911792 non coding transcript exon variant A/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs9892728
rs9892728
RAMP2 ; RAMP2-AS1
1 1.000 0.080 17 42761348 synonymous variant C/T snv 0.46 0.39 0.700 1.000 1 2019 2019
dbSNP: rs9891146
rs9891146
C17orf58
2 1.000 0.080 17 67991933 missense variant T/C snv 0.64 0.60 0.700 1.000 1 2018 2018
dbSNP: rs989099
rs989099
GCC1
1 1.000 0.080 7 127580773 3 prime UTR variant A/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs9873329
rs9873329
UBE2E2
1 1.000 0.080 3 23425535 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs9863600
rs9863600 		1 1.000 0.080 3 23149341 intergenic variant A/G snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs9859406
rs9859406
IGF2BP2
1 1.000 0.080 3 185816694 intron variant G/A snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs9855620
rs9855620 		1 1.000 0.080 3 23159799 regulatory region variant C/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs9847133
rs9847133
LMCD1-AS1
1 1.000 0.080 3 8208835 intron variant C/T snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs9844972
rs9844972 		4 1.000 0.080 3 150379848 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9841978
rs9841978
CACNA1D
1 1.000 0.080 3 53696708 intron variant G/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs9838915
rs9838915
KLF15
4 0.882 0.120 3 126347377 intron variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs9837654
rs9837654
IGF2BP2
1 1.000 0.080 3 185812534 intron variant G/A snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs9830468
rs9830468 		1 1.000 0.080 3 23149607 intergenic variant G/T snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs9828933
rs9828933
PSMD6
1 1.000 0.080 3 64017221 non coding transcript exon variant T/C snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs9826022
rs9826022 		1 1.000 0.080 3 185639472 downstream gene variant A/G snv 8.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs9825041
rs9825041
LARS2
1 1.000 0.080 3 45434501 intron variant A/G snv 0.83 0.010 < 0.001 1 2010 2010
dbSNP: rs982077
rs982077
USP3
1 1.000 0.080 15 63531102 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9817428
rs9817428
PPARG
3 0.925 0.120 3 12298768 intron variant C/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs9812056
rs9812056 		1 1.000 0.080 3 23162533 regulatory region variant T/C snv 0.21 0.700 1.000 3 2010 2013
dbSNP: rs979614
rs979614
CDKAL1
1 1.000 0.080 6 20661892 intron variant A/G snv 0.35 0.700 1.000 2 2010 2011
dbSNP: rs977340089
rs977340089
SLC2A11
2 0.925 0.080 22 23877782 missense variant G/A;T snv 0.020 0.500 2 2005 2005
dbSNP: rs974456
rs974456
STRA6
1 1.000 0.080 15 74194103 intron variant C/T snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2015 2015