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: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.020 0.500 2 2020 2020
dbSNP: rs4809960
rs4809960
CYP24A1
8 0.807 0.240 20 54169534 intron variant T/C snv 0.20 0.020 1.000 2 2020 2020
dbSNP: rs118049207
rs118049207
SND1
2 0.925 0.080 7 127890817 intron variant A/G snv 1.7E-03 0.010 1.000 1 2020 2020
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2070804
rs2070804
HSPB1
3 0.925 0.080 7 76304395 downstream gene variant T/G snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs2072580
rs2072580
SART3 ; ISCU
1 1.000 0.080 12 108561382 5 prime UTR variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs2470151
rs2470151
CYP19A1 ; MIR7973-2
4 0.925 0.080 15 51314872 intron variant C/T snv 0.29 0.010 1.000 1 2020 2020
dbSNP: rs2555639
rs2555639 		7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs397514632
rs397514632
POLD1
5 0.827 0.160 19 50406456 missense variant G/A snv 0.010 < 0.001 1 2020 2020
dbSNP: rs4796672
rs4796672
KRT15
1 1.000 0.080 17 41521908 intron variant C/T snv 0.66 0.010 1.000 1 2020 2020
dbSNP: rs590352
rs590352
ATXN7L3B
1 1.000 0.080 12 74538379 synonymous variant G/C snv 0.77 0.64 0.010 1.000 1 2020 2020
dbSNP: rs6022999
rs6022999
CYP24A1
9 0.790 0.160 20 54171474 intron variant A/G snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs6068816
rs6068816
CYP24A1
12 0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02 0.010 1.000 1 2020 2020
dbSNP: rs67052019
rs67052019 		1 1.000 0.080 1 109822839 regulatory region variant TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA delins 0.010 1.000 1 2020 2020
dbSNP: rs7198799
rs7198799
CDH1
3 0.882 0.120 16 68784487 intron variant C/T snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs7960917
rs7960917
KRAS
1 1.000 0.080 12 25208712 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2020 2020
dbSNP: rs8720
rs8720
KRAS
1 1.000 0.080 12 25206009 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
25 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 0.700 1.000 3 2019 2019
dbSNP: rs16878812
rs16878812
FKBP5 ; LOC112267956
10 0.776 0.080 6 35601785 intron variant A/G snv 0.15 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640
LAMA5
10 0.776 0.080 20 62357358 intron variant T/C snv 0.66 0.700 1.000 2 2019 2019
dbSNP: rs17816465
rs17816465
FMN1
10 0.776 0.080 15 32864185 intron variant G/A snv 0.15 0.700 1.000 2 2019 2019
dbSNP: rs1810502
rs1810502 		9 0.790 0.080 20 50440951 intergenic variant C/T snv 0.49 0.700 1.000 2 2019 2019
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.020 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139
BMP4
11 0.776 0.080 14 53952388 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019