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: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.720 1.000 5 2009 2015
dbSNP: rs73885319
rs73885319
APOL1
6 0.851 0.120 22 36265860 missense variant A/G snv 1.6E-02 6.6E-02 0.720 1.000 2 2010 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2018 2019
dbSNP: rs12460876
rs12460876
SLC7A9
4 1.000 0.080 19 32865985 intron variant T/C snv 0.36 0.700 1.000 2 2010 2018
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2016
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2016
dbSNP: rs7805747
rs7805747
PRKAG2
5 1.000 0.080 7 151710715 intron variant G/A snv 0.26 0.700 1.000 2 2010 2016
dbSNP: rs963837
rs963837
LINC02859 ; LOC101928338
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 2 2016 2019
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 2 2010 2019
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