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: rs10713774
rs10713774 		3 4 26048829 intergenic variant C/- del 0.18 0.700 1.000 1 2019 2019
dbSNP: rs200918659
rs200918659
RYR2
1 1 237402409 intron variant T/- del 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs372826270
rs372826270 		1 14 94325616 upstream gene variant TT/- del 1.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs5785580
rs5785580
REEP3
1 10 63530495 intron variant T/- del 0.46 0.700 1.000 1 2018 2018
dbSNP: rs111524356
rs111524356
CEP68 ; LOC107984063
2 2 65057022 intron variant -/GTGGATGCAGCAG;TGGATGCAGCAG;TGGATGCGGCAG;TGTATGCAGCAG delins 0.45 0.700 1.000 1 2018 2018
dbSNP: rs11296991
rs11296991
ARL15
2 5 54012825 intron variant TT/-;T;TTT delins 0.29 0.700 1.000 1 2018 2018
dbSNP: rs11340914
rs11340914
TCEA3
2 1 23421504 intron variant AA/-;A;AAA delins 0.65 0.700 1.000 1 2018 2018
dbSNP: rs133027
rs133027
PLA2G6
2 22 38179492 intron variant T/- delins 0.46 0.700 1.000 1 2018 2018
dbSNP: rs140868651
rs140868651
MAU2 ; SUGP1
1 19 19321482 intron variant G/- delins 4.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs142815467
rs142815467 		3 19 46291277 intergenic variant -/T delins 0.12 0.700 1.000 1 2017 2017
dbSNP: rs148149124
rs148149124
TUBGCP4
2 15 43382233 intron variant TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs150641967
rs150641967
HAPLN4
4 19 19259532 intron variant AGAC/-;AGACAGAC delins 0.700 1.000 1 2017 2017
dbSNP: rs1799777
rs1799777
ABCA1
1 9 104903754 5 prime UTR variant -/C delins 0.10 0.700 1.000 1 2018 2018
dbSNP: rs200513066
rs200513066 		2 2 218856230 upstream gene variant GAG/- delins 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs34078567
rs34078567 		1 19 44909968 non coding transcript exon variant GGG/-;G;GG;GGGG;GGGGG;GGGGGG delins 0.700 1.000 1 2018 2018
dbSNP: rs34248373
rs34248373
RFLNA ; ZNF664-RFLNA
1 12 124019257 intron variant AA/-;A;AAA delins 0.49 0.700 1.000 1 2018 2018
dbSNP: rs34518086
rs34518086
LOC105375508
1 7 130757845 intergenic variant T/-;TT;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs375519927
rs375519927
DLEU1
1 13 50433390 splice acceptor variant TTTTTTTT/-;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT delins 0.13 0.700 1.000 1 2018 2018
dbSNP: rs55951234
rs55951234
PLA2G6 ; MAFF
2 22 38205423 5 prime UTR variant -/CTC delins 0.700 1.000 1 2018 2018
dbSNP: rs573022400
rs573022400
BTN3A3
1 6 26441498 intron variant T/-;TT;TTT;TTTTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs57634090
rs57634090
GCKR
1 2 27508873 intron variant T/-;TT;TTT;TTTT;TTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 23 2008 2019
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.800 1.000 22 2009 2019
dbSNP: rs12678919
rs12678919 		10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.800 1.000 13 2009 2019
dbSNP: rs2954029
rs2954029 		14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.800 1.000 13 2009 2019