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: rs6784615
rs6784615
NISCH
2 1.000 0.080 3 52472410 intron variant C/T snv 0.96 0.96 0.800 1.000 1 2010 2010
dbSNP: rs3851294
rs3851294
DSTYK
2 1 205161285 missense variant A/G;T snv 0.93 0.700 1.000 2 2018 2019
dbSNP: rs1552286
rs1552286
NUDT18
1 8 22107291 3 prime UTR variant C/T snv 0.90 0.88 0.700 1.000 1 2019 2019
dbSNP: rs9988
rs9988
GGA3 ; NUP85
1 17 75234761 synonymous variant C/T snv 0.86 0.85 0.700 1.000 1 2019 2019
dbSNP: rs598346
rs598346
SYTL2
1 11 85725656 synonymous variant A/G;T snv 0.86; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2151131
rs2151131
TEX10
1 9 100346659 intron variant C/G snv 0.84 0.85 0.700 1.000 1 2019 2019
dbSNP: rs1789882
rs1789882
ADH1B
4 1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
5 1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79 0.700 1.000 1 2019 2019
dbSNP: rs2271613
rs2271613
DNAH17
1 17 78427016 synonymous variant G/A snv 0.74 0.65 0.700 1.000 1 2019 2019
dbSNP: rs747249
rs747249
ZBTB44-DT
1 11 130401752 intron variant A/G;T snv 0.71 0.700 1.000 2 2018 2019
dbSNP: rs1805741
rs1805741
PHC1
1 12 8921663 synonymous variant C/T snv 0.69 0.62 0.700 1.000 1 2018 2018
dbSNP: rs1139653
rs1139653
DNAJA3
1 16 4434395 missense variant A/T snv 0.68 0.69 0.700 1.000 1 2019 2019
dbSNP: rs757110
rs757110
ABCC8
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2526882
rs2526882
PCNX1
2 1.000 0.040 14 70907985 synonymous variant G/A;C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs1053593
rs1053593
HMGXB4
2 22 35264882 missense variant G/C;T snv 8.0E-06; 0.58 0.700 1.000 2 2018 2019
dbSNP: rs719802
rs719802
TTC12
2 11 113363957 intron variant T/C;G snv 0.56; 8.3E-06 0.700 1.000 1 2019 2019
dbSNP: rs11718898
rs11718898
CAND2
1 3 12807323 missense variant T/C snv 0.56 0.71 0.700 1.000 1 2019 2019
dbSNP: rs2276824
rs2276824
PBRM1
3 3 52603470 intron variant C/G snv 0.54 0.61 0.700 1.000 1 2018 2018
dbSNP: rs11085744
rs11085744
QTRT1
2 19 10709291 missense variant C/G;T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs3736485
rs3736485
DMXL2
2 15 51456413 non coding transcript exon variant A/G snv 0.50 0.50 0.700 1.000 1 2019 2019
dbSNP: rs1787013
rs1787013
CEP192
1 18 13072980 intron variant T/A;C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs1334576
rs1334576
RREB1
2 1.000 0.040 6 7211585 missense variant G/A snv 0.45 0.40 0.700 1.000 1 2019 2019
dbSNP: rs668871
rs668871
SLC22A3
2 6 160348779 synonymous variant C/G;T snv 0.45 0.50 0.700 1.000 2 2019 2019
dbSNP: rs2076529
rs2076529
BTNL2 ; TSBP1-AS1
2 1.000 0.120 6 32396178 synonymous variant T/C snv 0.41 0.39 0.800 1.000 1 2010 2010
dbSNP: rs7102
rs7102
LITAF
1 16 11548386 3 prime UTR variant T/C snv 0.39 0.37 0.700 1.000 1 2019 2019