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: rs1537373
rs1537373
CDKN2B-AS1
3 0.925 0.120 9 22103342 intron variant T/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1561927
rs1561927
LINC00824
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1630747
rs1630747
SLC5A3 ; MRPS6
2 0.925 0.120 21 34085692 intron variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs17458086
rs17458086
SLC2A13
2 0.925 0.120 12 40034837 intron variant T/C snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1810205
rs1810205
CUBN
2 0.925 0.120 10 16923228 intron variant A/G snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs1975920
rs1975920
PPFIBP1
1 1.000 0.120 12 27583053 intron variant G/T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs2001389
rs2001389
SUFU
3 0.925 0.120 10 102615501 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2027605
rs2027605
BACH1
3 1.000 0.120 21 29354452 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2035565
rs2035565
LINC01829
1 1.000 0.120 2 67392524 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs2073389
rs2073389
SMARCB1
2 0.925 0.120 22 23791306 intron variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs2162679
rs2162679
IGF1
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2206734
rs2206734
CDKAL1
6 0.882 0.160 6 20694653 intron variant C/T snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs2236479
rs2236479
SLC19A1 ; COL18A1
2 0.925 0.160 21 45499218 intron variant G/A snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs2237895
rs2237895
KCNQ1
10 0.790 0.240 11 2835964 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2239186
rs2239186
VDR
5 0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs2255280
rs2255280
C9 ; DAB2
2 0.925 0.120 5 39394887 intron variant C/A snv 0.98 0.700 1.000 1 2011 2011
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2457571
rs2457571
SLC22A3
2 0.925 0.120 6 160413796 intron variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs2470353
rs2470353
XPC ; LOC107986063
2 0.925 0.120 3 14148768 intron variant G/A;C;T snv 0.41; 1.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2832290
rs2832290
BACH1
1 1.000 0.120 21 29356542 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2941471
rs2941471
HNF4G
4 0.851 0.240 8 75558169 intron variant G/A snv 0.65 0.010 < 0.001 1 2018 2018