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: rs115747230
rs115747230 		1 1.000 0.080 9 76994030 downstream gene variant T/C snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11645800
rs11645800 		1 1.000 0.080 16 62966386 intergenic variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs116510623
rs116510623 		1 1.000 0.080 11 24209937 intergenic variant A/G snv 2.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11662622
rs11662622 		2 1.000 0.080 18 65592400 intergenic variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs117329947
rs117329947
C12orf75 ; LOC105369957
1 1.000 0.080 12 105391125 intron variant A/C snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs117935223
rs117935223
PRODH
2 1.000 0.080 22 18923820 non coding transcript exon variant C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs11959928
rs11959928
C9 ; DAB2
4 1.000 0.080 5 39397030 intron variant T/A snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs12032578
rs12032578
LINC00624
1 1.000 0.080 1 147339048 intron variant T/C snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12134854
rs12134854
SLC44A5
2 1.000 0.080 1 75671921 intron variant T/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs12194000
rs12194000
SLC22A16
2 1.000 0.080 6 110454809 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12207180
rs12207180
SLC22A2
2 1.000 0.080 6 160212075 intron variant T/A;G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1242780
rs1242780
PTPRN2
2 1.000 0.080 7 157757146 intron variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs12634709
rs12634709
LOC105377110
2 1.000 0.080 3 59603270 intron variant G/T snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs12963285
rs12963285 		1 1.000 0.080 18 57097183 intergenic variant T/C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs13084795
rs13084795 		1 1.000 0.080 3 152612677 intergenic variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1317947
rs1317947
MMP20 ; LOC101928477
2 1.000 0.080 11 102617342 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs13230625
rs13230625 		3 1.000 0.080 7 1246608 regulatory region variant G/A snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs13329952
rs13329952
UMOD
3 1.000 0.080 16 20355185 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 1 2010 2010
dbSNP: rs1362800
rs1362800
C9 ; DAB2
2 1.000 0.080 5 39378013 intron variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs138572244
rs138572244
C22orf31
1 1.000 0.080 22 29065297 upstream gene variant G/A snv 6.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs138873021
rs138873021
ADCY8
1 1.000 0.080 8 130951170 intron variant AGA/- delins 0.68 0.700 1.000 1 2019 2019
dbSNP: rs141635364
rs141635364
RREB1
1 1.000 0.080 6 7230882 missense variant A/G snv 4.0E-05 2.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs142085340
rs142085340
SIPA1L3
3 1.000 0.080 19 38106538 splice region variant C/T snv 9.1E-05 3.0E-04 0.700 1.000 1 2018 2018