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: rs59482735
rs59482735
PHF19
1 9 120881148 intron variant -/A;AA;AATA;AATTG ins 1.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs56935123
rs56935123 		1 4 145953075 intergenic variant -/T;TT delins 0.700 1.000 1 2017 2017
dbSNP: rs1629856
rs1629856
KLKP1
1 19 50895632 non coding transcript exon variant A/C snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs4237951
rs4237951
ATF7IP
1 12 14471640 intron variant A/C snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs4951018
rs4951018
SLC45A3
1 1 205667206 intron variant A/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs2735839
rs2735839 		7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.800 1.000 3 2010 2018
dbSNP: rs4614003
rs4614003 		1 8 23609471 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs9596300
rs9596300
DLEU1
1 13 50507855 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7954210
rs7954210
ATF7IP
1 12 14395380 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.800 1.000 3 2010 2017
dbSNP: rs11067228
rs11067228 		3 0.925 0.080 12 114656455 downstream gene variant A/G snv 0.37 0.800 1.000 2 2010 2017
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs10772782
rs10772782
ATF7IP
1 12 14439909 intron variant A/G snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs10855058
rs10855058
KLF8
1 X 55910389 intron variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs11263761
rs11263761
HNF1B
2 1.000 0.080 17 37737784 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs12429206
rs12429206
DLEU1
1 13 50871978 intron variant A/G snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs1354774
rs1354774
KLKP1
3 0.925 0.080 19 50889862 intron variant A/G snv 0.50 0.800 1.000 1 2013 2013
dbSNP: rs1506684
rs1506684 		1 19 50868163 intron variant A/G snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs16987929
rs16987929
KLKP1
1 19 50881997 downstream gene variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs17464492
rs17464492
POU5F1B ; CASC8 ; PCAT1 ; CASC21
1 8 127330621 intron variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs198956
rs198956
KLKP1
1 19 50887097 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs3213764
rs3213764
ATF7IP
3 0.925 0.080 12 14434367 missense variant A/G snv 0.47 0.42 0.800 1.000 1 2013 2013
dbSNP: rs3744763
rs3744763
HNF1B
3 0.925 0.160 17 37730894 non coding transcript exon variant A/G snv 0.30 0.700 1.000 1 2010 2010
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.800 1.000 1 2010 2010
dbSNP: rs4631830
rs4631830 		3 0.925 0.080 10 46052478 upstream gene variant A/G snv 0.43 0.700 1.000 1 2015 2015