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: rs10947789
rs10947789
KCNK5
2 0.925 0.080 6 39207146 intron variant T/C snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs11203042
rs11203042
LIPA
1 1.000 0.080 10 89229352 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.700 1.000 1 2013 2013
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs12936587
rs12936587 		5 0.882 0.080 17 17640408 regulatory region variant G/A snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs1561198
rs1561198
VAMP5
3 0.882 0.120 2 85582866 upstream gene variant C/T snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs17114036
rs17114036
PLPP3
5 0.851 0.120 1 56497149 intron variant A/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2047009
rs2047009 		2 0.925 0.080 10 44044465 regulatory region variant T/G snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2013 2013
dbSNP: rs2246833
rs2246833
LIPA
3 0.882 0.080 10 89246097 intron variant C/T snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs2281727
rs2281727
SMG6
4 0.882 0.080 17 2214651 intron variant A/G snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs2642
rs2642
GOT1
1 1.000 0.080 10 99396992 3 prime UTR variant T/C snv 5.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs2895811
rs2895811
HHIPL1
4 0.851 0.080 14 99667605 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs3798220
rs3798220
LPA
16 0.732 0.160 6 160540105 missense variant T/C snv 5.6E-02 3.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs445925
rs445925
APOC1
10 0.882 0.080 19 44912383 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs501120
rs501120 		10 0.763 0.240 10 44258419 downstream gene variant T/C snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs515135
rs515135 		9 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 0.700 1.000 1 2013 2013
dbSNP: rs579459
rs579459 		28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.700 1.000 1 2013 2013