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: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs16901904
rs16901904
PCAT1 ; LOC105375751
7 0.790 0.160 8 127015257 intron variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs2233947
rs2233947
PSORS1C1 ; PSORS1C2
6 0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs2239895
rs2239895
NEAT1 ; LOC107984338
2 0.925 0.080 11 65423976 non coding transcript exon variant G/C snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs4513061
rs4513061
AGBL1
6 0.807 0.080 15 86428401 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4573350
rs4573350
LHX6 ; MORN5
1 1.000 0.080 9 122192836 intron variant T/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs710886
rs710886
PCAT1 ; LOC105375751
9 0.763 0.160 8 127014615 intron variant C/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs112233273
rs112233273 		1 1.000 0.080 1 160908636 intergenic variant G/A snv 4.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs116043036
rs116043036 		1 1.000 0.080 6 28237041 downstream gene variant A/G snv 5.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs12686364
rs12686364 		1 1.000 0.080 9 21670088 intergenic variant A/G snv 8.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs138712069
rs138712069
DCLK1 ; LOC105370163
1 1.000 0.080 13 35897512 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs140781040
rs140781040
FAM155A
1 1.000 0.080 13 107661103 intron variant C/T snv 4.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs142604597
rs142604597
ESM1
1 1.000 0.080 5 54981998 splice region variant C/T snv 9.4E-03 8.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs147833373
rs147833373
DCUN1D4
1 1.000 0.080 4 51845211 non coding transcript exon variant A/T snv 4.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs148176174
rs148176174
NF1
1 1.000 0.080 17 31219525 intron variant C/T snv 6.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs148767741
rs148767741 		1 1.000 0.080 20 6230855 intergenic variant G/A snv 1.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs150007688
rs150007688 		1 1.000 0.080 5 42284854 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs181468389
rs181468389 		1 1.000 0.080 5 74917726 non coding transcript exon variant G/A snv 1.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs185373991
rs185373991
LCORL
1 1.000 0.080 4 17864241 intron variant T/A snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs185815317
rs185815317
IL1RL2
1 1.000 0.080 2 102241279 downstream gene variant G/T snv 1.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs188460661
rs188460661
NF1
1 1.000 0.080 17 31366922 intron variant G/A snv 6.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs188556805
rs188556805 		1 1.000 0.080 21 33224308 intergenic variant T/C snv 3.3E-04 0.700 1.000 1 2018 2018
dbSNP: rs189720575
rs189720575
PTCSC2
1 1.000 0.080 9 97787047 intron variant G/A snv 4.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs191456353
rs191456353
PC
1 1.000 0.080 11 66872703 intron variant C/G snv 5.6E-03 0.700 1.000 1 2018 2018