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: rs1001030257
rs1001030257
PDE4D
1 5 58988559 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs10068737
rs10068737 		1 5 118700852 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1009840
rs1009840
SGK1 ; LOC107986646
1 6 134225547 intron variant G/A snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 2 2010 2012
dbSNP: rs10178409
rs10178409 		2 1.000 0.080 2 73628380 downstream gene variant G/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs1020120
rs1020120
LOC102724036
2 1.000 0.080 9 84611173 intron variant C/T snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs102274
rs102274
TMEM258
3 1.000 0.080 11 61790354 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.800 1.000 3 2010 2018
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1066621
rs1066621 		2 1.000 0.080 3 191708066 regulatory region variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10774021
rs10774021
SLC6A13
4 1.000 0.080 12 240132 intron variant C/T snv 0.57 0.700 1.000 2 2010 2012
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
3 1.000 0.080 14 67509105 intron variant A/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2012
dbSNP: rs10865710
rs10865710
PPARG
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs10906850
rs10906850
LOC105376434
2 1.000 0.080 10 15183055 regulatory region variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs11011653
rs11011653
PLXDC2
2 1.000 0.080 10 19875064 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11078903
rs11078903
CDK12
2 17 39475671 intron variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs112201728
rs112201728
SLC22A1
2 1.000 0.080 6 160130454 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs112329286
rs112329286
SYNE2
4 1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24 0.700 1.000 1 2018 2018