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: rs12978472
rs12978472
INSR
5 19 7257979 intron variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs13359291
rs13359291
PRDM6
2 5 123140763 intron variant G/A;C snv 0.700 1.000 2 2015 2017
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 2 2018 2018
dbSNP: rs1898165
rs1898165 		1 18 75328421 intergenic variant G/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.700 1.000 2 2017 2018
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.700 1.000 2 2017 2018
dbSNP: rs2188717
rs2188717
TNRC6A
1 16 24718909 intron variant T/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 2 2019 2019
dbSNP: rs3736290
rs3736290
EIF2AK4
1 15 40029150 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs3743157
rs3743157
PDE8A
1 15 85137301 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs4462906
rs4462906 		3 3 27551369 upstream gene variant T/A;G snv 0.700 1.000 2 2018 2018
dbSNP: rs448378
rs448378
MECOM
5 1.000 0.040 3 169383111 intron variant G/A;C snv 0.700 1.000 2 2009 2016
dbSNP: rs4919669
rs4919669
ARL3
2 10 102712218 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs56388530
rs56388530
NPNT
2 4 105989801 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs62524579
rs62524579 		4 8 142979538 downstream gene variant G/A;C;T snv 0.700 1.000 2 2017 2018
dbSNP: rs687914
rs687914
PRKCE ; LOC102724965
3 2 45651621 5 prime UTR variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs6911827
rs6911827
CASC15
1 6 22130372 intron variant C/G;T snv 0.700 1.000 2 2017 2019
dbSNP: rs6969780
rs6969780
HOXA3 ; HOXA-AS2
4 7 27119517 splice region variant G/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs7137828
rs7137828
ATXN2
15 0.763 0.200 12 111494996 intron variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs73029563
rs73029563 		3 2 164151656 intron variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs76735299
rs76735299 		2 8 141386381 downstream gene variant G/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs7912283
rs7912283
PPP2R2D
1 10 131959515 3 prime UTR variant G/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs9368222
rs9368222
CDKAL1
8 1.000 0.080 6 20686765 intron variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs9844972
rs9844972 		4 1.000 0.080 3 150379848 regulatory region variant G/A;C snv 0.700 1.000 2 2017 2019