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: rs10489177
rs10489177
C1orf112 ; METTL18
4 0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs104894014
rs104894014
GCK
3 0.925 0.080 7 44145167 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2007 2007
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10497721
rs10497721
TMEFF2 ; LOC101927366
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs10509291
rs10509291 		6 0.827 0.280 10 67875446 downstream gene variant T/A snv 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs10517086
rs10517086
LINC02357
4 0.882 0.160 4 26083889 intron variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1052700
rs1052700
PLIN1 ; KIF7
3 1.000 0.040 15 89665079 3 prime UTR variant A/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1056534
rs1056534
TBCD ; FN3K
5 0.882 0.200 17 82750725 synonymous variant C/A;G;T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs1057293
rs1057293
SGK1
4 0.925 0.120 6 134172259 synonymous variant G/A snv 0.12 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1057520504
rs1057520504
HNF1A
4 0.882 0.080 12 120994238 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1060366
rs1060366
ATP1A1
2 1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 0.500 2 2007 2012
dbSNP: rs10636
rs10636
MT2A
7 0.851 0.160 16 56609431 3 prime UTR variant G/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs1073203
rs1073203 		4 0.882 0.160 5 125983763 intron variant C/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs10747983
rs10747983
AVPR1A
2 1.000 0.040 12 63144678 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs10757272
rs10757272
CDKN2B-AS1
6 0.851 0.160 9 22088261 intron variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs10757283
rs10757283 		6 0.827 0.120 9 22134173 intergenic variant C/A;T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs10811652
rs10811652
CDKN2B-AS1
4 0.882 0.120 9 22077086 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.030 1.000 3 2010 2018