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: rs10140164
rs10140164
WDHD1
1 14 54939405 3 prime UTR variant A/G snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs10140801
rs10140801
LOC105370509
1 14 55263686 intron variant C/T snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs10140857
rs10140857
DLGAP5
1 14 55152893 intron variant G/C snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs10140869
rs10140869
FBXO34
1 14 55328565 intron variant G/A snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs10141396
rs10141396
FBXO34
1 14 55350207 intron variant T/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10141552
rs10141552
FBXO34
1 14 55279373 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10142448
rs10142448
ATG14
1 14 55371390 intron variant A/C snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs10144326
rs10144326
DLGAP5
1 14 55177190 synonymous variant A/G snv 0.16 0.29 0.700 1.000 1 2012 2012
dbSNP: rs10144418
rs10144418
FBXO34
1 14 55350990 synonymous variant T/C snv 0.37 0.36 0.700 1.000 1 2012 2012
dbSNP: rs10146637
rs10146637
FBXO34
2 14 55278092 intron variant G/A snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10146736
rs10146736
TBPL2 ; LOC107984664
1 14 55431206 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10147434
rs10147434
LOC107984708
1 14 55208129 regulatory region variant C/T snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs10147667
rs10147667 		1 14 55104131 intergenic variant T/C snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs10147765
rs10147765
FBXO34
1 14 55361108 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10150760
rs10150760
FBXO34
1 14 55354830 intron variant A/G snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs10211524
rs10211524
LINC02245 ; LOC107984063
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs10265221
rs10265221
PRKAG2
3 7 151717243 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1045002
rs1045002
FBXO34
1 14 55351799 missense variant T/A;G snv 0.38; 4.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs1045004
rs1045004
FBXO34
1 14 55353073 3 prime UTR variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10466351
rs10466351 		3 11 92964815 upstream gene variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10467798
rs10467798 		1 14 55258209 downstream gene variant C/T snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs10483639
rs10483639 		3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs10483641
rs10483641
TBPL2 ; LOC107984664
1 14 55435251 intron variant T/A snv 6.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs10498472
rs10498472
GCH1
1 14 54888151 intron variant T/C;G snv 0.700 1.000 1 2012 2012