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: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs16926246
rs16926246
HK1
4 10 69333636 intron variant C/T snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.800 1.000 1 2009 2009
dbSNP: rs9483788
rs9483788 		4 6 135114363 intergenic variant T/C snv 0.19 0.800 1.000 1 2009 2009
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 2 2010 2012
dbSNP: rs2032314
rs2032314
LOC105372790
2 21 33982222 downstream gene variant T/C snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs7312105
rs7312105
CACNA1C
2 12 2414189 intron variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs13008603
rs13008603
PRKCE
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs2213169
rs2213169
HBE1 ; HBG2
4 11 5281833 intron variant G/A;T snv 4.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs762516
rs762516
G6PD
4 X 154536448 intron variant C/T snv 4.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs10008637
rs10008637
SHROOM3
2 4 76492991 intron variant T/A;C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs1010553
rs1010553
STAB1
2 1.000 0.080 3 52506757 synonymous variant T/C snv 0.53 0.59 0.700 1.000 1 2016 2016
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10495928
rs10495928
PRKCE
5 2 46126027 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs10711289
rs10711289
MECOM ; MECOM-AS1
1 3 169450583 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11039436
rs11039436 		2 11 47866484 intergenic variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11072567
rs11072567
NRG4
5 15 76006403 intron variant A/G snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs111843364
rs111843364
HYDIN
1 16 70923707 intron variant G/A snv 3.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs112682076
rs112682076
KIF1B
2 1 10297748 intron variant G/C snv 5.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs114948639
rs114948639
PRKCE
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11654074
rs11654074
VMP1
5 17 59748211 intron variant A/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs11665867
rs11665867
SNRPA
1 19 40760574 intron variant A/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs11689538
rs11689538
TFCP2L1
3 2 121238062 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016