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: 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: rs139401390
rs139401390 		5 0.851 0.120 10 88643382 regulatory region variant A/G snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs141310123
rs141310123
NFATC1
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
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
dbSNP: rs142864856
rs142864856 		2 1.000 0.080 2 151100757 intergenic variant CA/-;CACA;CACACA;CACACACA delins 0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
5 0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs144210385
rs144210385
LUC7L3
1 1.000 0.080 17 50748155 intron variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs145048495
rs145048495
INHBC
1 1.000 0.080 12 57449402 missense variant A/G snv 1.3E-03 2.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs146203232
rs146203232
IGF2R
2 1.000 0.080 6 160100853 intron variant C/T snv 5.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs146639727
rs146639727
RPN1
1 1.000 0.080 3 128669172 intron variant G/C snv 1.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs147084429
rs147084429
LINC02188
1 1.000 0.080 16 86727784 intron variant C/T snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs147372871
rs147372871
LRIG1 ; SLC25A26
1 1.000 0.080 3 66386050 missense variant G/A;T snv 2.9E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484
DPEP1
3 1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs149847328
rs149847328
GCKR
1 1.000 0.080 2 27503548 stop gained C/T snv 3.1E-04 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs1505141
rs1505141 		1 1.000 0.080 13 76307915 intergenic variant C/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs1535
rs1535
FADS2
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs1551122
rs1551122
OTOGL
2 1.000 0.080 12 80372020 missense variant A/G snv 0.58 0.50 0.700 1.000 1 2018 2018
dbSNP: rs16864170
rs16864170 		2 1.000 0.080 2 5767748 intergenic variant T/C snv 3.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs16942751
rs16942751
AQP4-AS1
3 1.000 0.080 18 26813249 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17253658
rs17253658
LOC102723561
2 1.000 0.080 5 21172184 intergenic variant C/T snv 4.4E-02 0.700 1.000 1 2018 2018