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: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2019 2019
dbSNP: rs768910
rs768910
UHMK1
1 1.000 0.040 1 162519834 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs7329174
rs7329174
ELF1
3 0.882 0.120 13 40983974 intron variant A/G snv 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs7765379
rs7765379 		5 0.827 0.280 6 32713151 upstream gene variant T/G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs2076756
rs2076756
NOD2
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1799964
rs1799964
LTA ; TNF ; LOC100287329
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs17221417
rs17221417
NOD2
3 0.925 0.040 16 50705671 intron variant C/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs2274910
rs2274910
ITLN1
6 0.827 0.200 1 160882256 non coding transcript exon variant T/C snv 0.65 0.58 0.010 1.000 1 2019 2019
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2019 2019