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: rs577660579
rs577660579 		1 3 142156760 downstream gene variant TTTTTTTTTTTTT/-;TT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT delins 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10715507
rs10715507
SLC9B2
1 4 103060542 intron variant TTTTTTT/-;T;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs10587862
rs10587862
TFDP2
1 3 142045613 intron variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs149064151
rs149064151
TFDP2
1 3 142045613 intron variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs66684608
rs66684608
LOC112268144
1 15 40975293 downstream gene variant TTTG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs541524196
rs541524196
FBXL20
1 17 39377507 intron variant TTT/-;TT;TTTT;TTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs35077430
rs35077430
INO80
1 15 41041835 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs371570792
rs371570792
SORD2P
1 15 44827969 intron variant TTT/-;T;TT;TTTT delins 0.23 0.700 1.000 1 2019 2019
dbSNP: rs201777573
rs201777573
PHTF2
1 7 77853399 intron variant TT/-;T;TTT;TTTTTTTTTTT delins 0.23 0.700 1.000 1 2019 2019
dbSNP: rs112702219
rs112702219
PSPH
1 7 56021426 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs60307791
rs60307791 		3 1.000 0.040 11 65767714 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs11296991
rs11296991
ARL15
2 5 54012825 intron variant TT/-;T;TTT delins 0.29 0.700 1.000 1 2019 2019
dbSNP: rs111770942
rs111770942
ALMS1
1 2 73498512 intron variant TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG delins 0.700 1.000 1 2019 2019
dbSNP: rs2273684
rs2273684
GSS
2 1.000 0.040 20 34941963 intron variant T/G snv 0.52 0.700 1.000 3 2019 2019
dbSNP: rs13283416
rs13283416
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116539328 intron variant T/G snv 0.41 0.700 1.000 2 2019 2019
dbSNP: rs3770636
rs3770636
LRP2
2 2 169346323 intron variant T/G snv 4.6E-02 0.700 1.000 2 2019 2019
dbSNP: rs10096421
rs10096421
XKR6
1 8 10974358 intron variant T/G snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs10430743
rs10430743
EEF1AKMT2
1 10 124768428 intron variant T/G snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs10513801
rs10513801
ETV5
3 3 186104564 intron variant T/G snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs10753629
rs10753629 		1 1 163769110 downstream gene variant T/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs1075403
rs1075403
IQCN
1 19 18274140 intron variant T/G snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs12186509
rs12186509
ARL15
1 5 54010860 intron variant T/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs151246
rs151246
AQP4-AS1
2 18 26869139 intron variant T/G snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs1536225
rs1536225
PDCD11
1 10 103442561 intron variant T/G snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs16823254
rs16823254
PDE1A
1 2 182444555 intron variant T/G snv 0.16 0.700 1.000 1 2019 2019