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: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.020 1.000 2 2008 2010
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: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
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: 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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs11959928
rs11959928
C9 ; DAB2
4 1.000 0.080 5 39397030 intron variant T/A snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2010 2010
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 1 2010 2010
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16864170
rs16864170 		2 1.000 0.080 2 5767748 intergenic variant T/C snv 3.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs2279463
rs2279463
SLC22A2
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2453533
rs2453533 		4 1.000 0.080 15 45349027 intergenic variant C/A snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs2575390
rs2575390
PRKCB
3 0.925 0.080 16 23835433 upstream gene variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs347685
rs347685
TFDP2
4 1.000 0.080 3 142088295 intron variant C/A snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs3760106
rs3760106
PRKCB
3 0.925 0.080 16 23834475 upstream gene variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs4014195
rs4014195 		7 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 0.700 1.000 1 2010 2010
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: rs452204
rs452204
IL1RN
7 0.807 0.200 2 113131484 intron variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 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: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 1 2010 2010