Source: BEFREE ×
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: rs633862
rs633862 		2 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 0.720 1.000 2 2014 2017
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
12 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.720 1.000 2 2010 2016
dbSNP: rs11175194
rs11175194
SRGAP1
2 0.925 0.120 12 63871057 intron variant G/A snv 0.15 0.710 1.000 1 2014 2014
dbSNP: rs11782652
rs11782652
CHMP4C
2 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.710 1.000 1 2013 2015
dbSNP: rs1192691
rs1192691 		2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.710 1.000 1 2014 2014
dbSNP: rs1243180
rs1243180
MLLT10
5 0.790 0.160 10 21626690 intron variant T/A snv 0.23 0.710 1.000 1 2013 2015
dbSNP: rs1413299
rs1413299
COL15A1
2 0.925 0.120 9 98998959 intron variant G/A;T snv 0.710 1.000 1 2014 2014
dbSNP: rs142091544
rs142091544 		2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs17329882
rs17329882
SYNPO2
2 0.925 0.120 4 119028805 intron variant A/C;T snv 0.710 1.000 1 2015 2017
dbSNP: rs4286604
rs4286604 		2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.710 1.000 1 2019 2019
dbSNP: rs4525119
rs4525119
AKR1C3 ; LOC107984198
2 0.925 0.120 10 5049762 intron variant C/T snv 0.30 0.710 1.000 1 2019 2019
dbSNP: rs757210
rs757210
HNF1B
4 0.807 0.160 17 37736525 intron variant C/G;T snv 0.710 1.000 1 2013 2015
dbSNP: rs7643459
rs7643459
LMCD1-AS1 ; LOC101927394
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2009 2016
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 0.500 2 2003 2015
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2009 2013
dbSNP: rs10017134
rs10017134
UGT2A1 ; UGT2A2
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1002076
rs1002076
KIF1B
2 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs1017134
rs1017134 		2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
THSD7A
2 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1057156
rs1057156
RUVBL1
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs10788679
rs10788679
ARHGEF10L
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013