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: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1556446493
rs1556446493
COL4A5
3 X 108668328 missense variant G/T snv 0.700 0
dbSNP: rs730882222
rs730882222
SLC13A5
3 0.925 0.040 17 6707026 splice donor variant A/C snv 0.700 0
dbSNP: rs754279998
rs754279998
MKS1
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
dbSNP: rs770084716
rs770084716
SDCCAG8
3 1.000 1 243330591 stop gained C/G;T snv 4.0E-06 0.700 0
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: 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: 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: 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: 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
dbSNP: rs11320420
rs11320420
MYRF ; TMEM258
2 1.000 0.080 11 61774535 intron variant AAAAA/-;AAA;AAAA;AAAAAA delins 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11662622
rs11662622 		2 1.000 0.080 18 65592400 intergenic variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1168357
rs1168357
GRIP1
1 12 66356099 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs1171614
rs1171614
SLC16A9
7 0.882 0.200 10 59709780 5 prime UTR variant T/C snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs1171616
rs1171616
SLC16A9
6 0.882 0.200 10 59708831 intron variant G/T snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs117935223
rs117935223
PRODH
2 1.000 0.080 22 18923820 non coding transcript exon variant C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs12134854
rs12134854
SLC44A5
2 1.000 0.080 1 75671921 intron variant T/C snv 0.27 0.700 1.000 1 2018 2018