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: rs881858
rs881858
LOC105375069 ; LOC107986598
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 6 2016 2019
dbSNP: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 5 2018 2019
dbSNP: rs2279463
rs2279463
SLC22A2
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 5 2016 2019
dbSNP: rs16942751
rs16942751
AQP4-AS1
3 1.000 0.080 18 26813249 intron variant C/A;T snv 0.700 1.000 4 2018 2019
dbSNP: rs267738
rs267738
CERS2
4 1.000 0.040 1 150968149 missense variant T/A;G snv 4.0E-06; 0.15 0.700 1.000 4 2017 2019
dbSNP: rs10265221
rs10265221
PRKAG2
3 7 151717243 intron variant T/A;C snv 0.700 1.000 3 2016 2019
dbSNP: rs2337106
rs2337106
SMAD7
4 18 48934533 intron variant C/A;G snv 0.700 1.000 3 2018 2019
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 3 2016 2019
dbSNP: rs7007761
rs7007761 		1 8 23862058 TF binding site variant C/A;G;T snv 0.700 1.000 3 2019 2019
dbSNP: rs11103387
rs11103387
QSOX2
1 9 136216033 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs11166440
rs11166440 		1 1 100342807 upstream gene variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs117463603
rs117463603 		1 6 32612725 intergenic variant G/A snv 0.700 1.000 2 2018 2019
dbSNP: rs13081203
rs13081203
SENP2
1 3 185604855 intron variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs13230509
rs13230509 		1 7 1246556 regulatory region variant G/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs1758206
rs1758206
ARFRP1
1 20 63704982 non coding transcript exon variant T/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs2001945
rs2001945 		10 8 125465736 upstream gene variant G/A;C;T snv 0.700 1.000 2 2019 2019
dbSNP: rs2235826
rs2235826
PCK1
1 20 57568113 3 prime UTR variant T/A;G snv 0.700 1.000 2 2019 2019
dbSNP: rs2467853
rs2467853
SPATA5L1
4 1.000 0.080 15 45406595 intron variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs2802729
rs2802729
SDCCAG8
2 1 243338461 intron variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs316009
rs316009
SLC22A2
2 6 160254732 intron variant T/C;G snv 0.700 1.000 2 2016 2016
dbSNP: rs3822939
rs3822939
EYA4 ; TARID
1 6 133528651 intron variant A/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs4667594
rs4667594
LRP2
2 2 169151996 intron variant T/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs4690095
rs4690095
RGS12
3 4 3419582 intron variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs4871905
rs4871905 		1 8 23877534 intergenic variant G/A;C;T snv 0.700 1.000 2 2019 2019
dbSNP: rs7208487
rs7208487
FBXL20
4 0.925 0.080 17 39387196 intron variant T/A;G snv 0.800 1.000 2 2012 2016