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: rs1020475809
rs1020475809
NQO1
2 0.925 0.080 16 69711027 synonymous variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs10216653
rs10216653
CHRAC1
3 0.882 0.080 8 140516886 3 prime UTR variant G/C snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs10235235
rs10235235
ZNF394 ; ZNF789
4 0.925 0.080 7 99478208 intron variant T/C snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10273424
rs10273424
TMEM225B
3 0.925 0.080 7 99598450 intron variant T/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1029946
rs1029946
PRKAG2
2 0.925 0.080 7 151578720 intron variant A/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1033602309
rs1033602309
SHROOM2
1 1.000 0.080 X 9937279 missense variant G/C snv 0.700 0
dbSNP: rs1033662
rs1033662
LINC01524 ; LOC105372666
2 0.925 0.080 20 52408842 intron variant A/G snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs1034429230
rs1034429230
PACC1
1 1.000 0.080 1 212365260 missense variant C/G snv 1.4E-05 0.700 0
dbSNP: rs1034794
rs1034794 		2 0.925 0.080 7 124801348 intergenic variant A/T snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs10380
rs10380
MTRR
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1038304
rs1038304
CCDC170 ; LOC107986528
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs10402468
rs10402468
BABAM1 ; USHBP1
1 1.000 0.080 19 17273194 intron variant C/A snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs10406920
rs10406920
BABAM1 ; USHBP1
1 1.000 0.080 19 17278839 splice region variant C/T snv 0.15 0.18 0.700 1.000 1 2010 2010
dbSNP: rs10415471
rs10415471
USHBP1
1 1.000 0.080 19 17250255 synonymous variant C/A;G;T snv 4.1E-06; 0.16 0.700 1.000 1 2010 2010
dbSNP: rs10416654
rs10416654
BABAM1 ; USHBP1
1 1.000 0.080 19 17274367 intron variant T/C snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs10418154
rs10418154
BABAM1 ; USHBP1
1 1.000 0.080 19 17275197 intron variant A/G snv 0.18 0.700 1.000 1 2010 2010
dbSNP: rs10418362
rs10418362
BABAM1 ; USHBP1
1 1.000 0.080 19 17275298 intron variant A/T snv 0.18 0.700 1.000 1 2010 2010
dbSNP: rs10419397
rs10419397
BABAM1 ; USHBP1 ; ANKLE1
1 1.000 0.080 19 17280519 intron variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10419742
rs10419742
NR2F6
1 1.000 0.080 19 17242176 intron variant G/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1041983
rs1041983
NAT2
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2016 2016