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: rs10852936
rs10852936
ZPBP2
3 0.925 0.120 17 39875461 intron variant C/T snv 0.39 0.40 0.010 1.000 1 2014 2014
dbSNP: rs35736272
rs35736272
ZPBP2
6 0.807 0.160 17 39876427 intron variant T/C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs259964
rs259964
ZNF831
6 0.827 0.120 20 59249254 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9304742
rs9304742
ZNF816-ZNF321P
1 1.000 0.040 19 52948038 intron variant T/C snv 0.42 0.800 1.000 2 2010 2015
dbSNP: rs7071642
rs7071642
ZNF365 ; LOC105378327
1 1.000 0.040 10 62654300 intron variant G/A snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs10761648
rs10761648
ZNF365
5 0.827 0.120 10 62594503 intron variant C/T snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs2944542
rs2944542
ZNF365
2 0.925 0.120 10 62610240 intron variant C/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs7915475
rs7915475
ZNF365
5 0.827 0.120 10 62621908 intron variant A/G snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs11593576
rs11593576
ZMIZ1
2 0.925 0.040 10 79256139 intron variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs1250544
rs1250544
ZMIZ1
3 0.882 0.080 10 79273128 intron variant G/A snv 0.32 0.810 1.000 1 2012 2012
dbSNP: rs1250546
rs1250546
ZMIZ1
3 0.925 0.080 10 79272775 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs1250563
rs1250563
ZMIZ1
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs1250573
rs1250573
ZMIZ1
5 0.827 0.120 10 79282718 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs73510898
rs73510898
ZGLP1
2 0.925 0.120 19 10305768 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs249038
rs249038
ZFYVE16
1 1.000 0.040 5 80449650 missense variant A/G snv 0.91 0.87 0.700 1.000 1 2015 2015
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.040 1.000 4 2014 2020
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.030 1.000 3 2014 2020
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 1.000 2 2014 2015
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2014 2017
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 < 0.001 1 2019 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2014 2014
dbSNP: rs191667458
rs191667458
USP49
1 1.000 0.040 6 41829160 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs140135
rs140135
UQCR10 ; ZMAT5
5 0.827 0.120 22 29767846 non coding transcript exon variant C/G snv 0.79 0.700 1.000 1 2016 2016