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: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs6855911
rs6855911
SLC2A9
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs16890979
rs16890979
SLC2A9
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.010 1.000 1 2018 2018
dbSNP: rs150801101
rs150801101
IGF1R
1 1.000 0.040 15 98957359 missense variant G/A snv 1.1E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs4148500
rs4148500
ABCC4
1 1.000 0.040 13 95166034 intron variant G/A snv 1.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs753397550
rs753397550
COL1A2
1 1.000 0.040 7 94426426 missense variant C/G;T snv 4.6E-06; 9.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs1209613132
rs1209613132
COL1A2
1 1.000 0.040 7 94404745 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs142226072
rs142226072
DPEP1
1 1.000 0.040 16 89637551 splice region variant C/T snv 2.2E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs72552713
rs72552713
ABCG2
2 0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 10 2010 2019
dbSNP: rs2054576
rs2054576
ABCG2
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs199897813
rs199897813
ABCG2
2 1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs7903456
rs7903456
SHLD2
3 0.882 0.160 10 87159562 intron variant C/T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs7688672
rs7688672
PRKG2
2 0.925 0.160 4 81148295 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs6837293
rs6837293
PRKG2
2 0.925 0.160 4 81141777 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs141310123
rs141310123
NFATC1
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs2941484
rs2941484
HNF4G
4 0.882 0.160 8 75566533 3 prime UTR variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2016 2016
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs200548390
rs200548390
BAZ1B
1 1.000 0.040 7 73478187 missense variant T/C snv 3.3E-04 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs151305324
rs151305324
TMEM171
3 1.000 0.040 5 73123606 missense variant G/A snv 6.8E-05; 8.0E-06 9.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs143231463
rs143231463
RREB1
3 1.000 0.040 6 7226577 missense variant A/G snv 1.8E-04 2.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs200933617
rs200933617
NFAT5
3 1.000 0.040 16 69647162 missense variant G/A snv 8.2E-04 6.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2006 2006
dbSNP: rs202007714
rs202007714
LRIG1 ; SLC25A26
4 1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 0.700 1.000 1 2018 2018