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: rs4293393
rs4293393
UMOD
8 0.827 0.200 16 20353266 intron variant A/G snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs4821469
rs4821469 		1 1.000 0.080 22 36220399 intergenic variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 1 2010 2010
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: rs1044261
rs1044261
GTPBP4 ; IDI2
3 1.000 0.080 10 1019770 stop gained C/T snv 5.0E-02 6.0E-02 0.700 1.000 1 2016 2016
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: rs10774021
rs10774021
SLC6A13
4 1.000 0.080 12 240132 intron variant C/T snv 0.57 0.700 1.000 1 2010 2010
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: rs10783124
rs10783124 		1 1.000 0.080 1 99937719 intergenic variant A/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 1 2010 2010
dbSNP: rs10906850
rs10906850
LOC105376434
2 1.000 0.080 10 15183055 regulatory region variant T/C snv 0.29 0.700 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: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11128347
rs11128347
PDZRN3
1 1.000 0.080 3 73570410 intron variant G/C;T snv 0.13 0.700 1.000 1 2011 2011
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: rs112407915
rs112407915 		1 1.000 0.080 3 5505762 intergenic variant T/A snv 1.6E-02 0.700 1.000 1 2019 2019
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: rs114425659
rs114425659 		1 1.000 0.080 4 117920116 intergenic variant G/A snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1145077
rs1145077
GATM
2 1.000 0.080 15 45391597 intron variant G/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs115007604
rs115007604
LINC02284
1 1.000 0.080 14 56358353 intron variant G/A snv 6.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs115747230
rs115747230 		1 1.000 0.080 9 76994030 downstream gene variant T/C snv 1.8E-02 0.700 1.000 1 2019 2019