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: rs2388405
rs2388405
FTO
1 1.000 0.080 16 53833547 intron variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs2441666
rs2441666
WASHC1
1 1.000 0.080 9 63957 intron variant C/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2721
rs2721
INSIG1 ; LOC105375591
1 1.000 0.080 7 155296033 non coding transcript exon variant T/G snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs2784243
rs2784243 		1 1.000 0.080 6 51589842 intergenic variant C/T snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs4340288
rs4340288
DPH6-DT
1 1.000 0.080 15 35811250 intron variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
3 0.882 0.120 1 209706871 intron variant -/A delins 0.010 1.000 1 2019 2019
dbSNP: rs4600063
rs4600063
SDHC
1 1.000 0.080 1 161363401 3 prime UTR variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs4788101
rs4788101
TUFM ; SH2B1
2 0.925 0.120 16 28856483 intron variant C/T snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs4846052
rs4846052
MTHFR
1 1.000 0.080 1 11797894 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs6443626
rs6443626
PIK3CA ; KCNMB3
4 0.851 0.200 3 179237995 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs6749704
rs6749704
CCL20
5 0.827 0.240 2 227813126 intron variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs7181866
rs7181866
GABPB1
2 0.925 0.120 15 50318595 intron variant A/G snv 6.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs746130183
rs746130183
TMEM131
1 1.000 0.080 2 97927485 missense variant A/G snv 8.8E-06 0.010 1.000 1 2019 2019
dbSNP: rs748601675
rs748601675
BBS9
1 1.000 0.080 7 33357863 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs763000109
rs763000109
TNF
9 0.827 0.240 6 31575788 missense variant C/G;T snv 4.1E-06; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs7670903
rs7670903
KLB
1 1.000 0.080 4 39441340 intron variant A/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs7674434
rs7674434
KLB
2 0.925 0.120 4 39417789 intron variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs7678287
rs7678287
SLC2A9 ; LOC105374476
2 1.000 0.080 4 9998877 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs8031031
rs8031031
GABPB1
1 1.000 0.080 15 50305127 intron variant C/T snv 6.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs8192729
rs8192729
CYP2A6
2 1.000 0.080 19 40845091 non coding transcript exon variant C/T snv 6.5E-02 7.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs824248
rs824248
LINGO2
3 0.925 0.120 9 28772702 intergenic variant A/T snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs9380526
rs9380526
FKBP5
1 1.000 0.080 6 35690550 intron variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs9719268
rs9719268
INSIG1
1 1.000 0.080 7 155306928 intron variant G/T snv 0.12 0.010 1.000 1 2019 2019