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: rs11989430
rs11989430
1 1.000 0.040 8 89806387 regulatory region variant A/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs7193275
rs7193275
1 1.000 0.040 16 85984869 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11649485
rs11649485
1 1.000 0.040 16 85980849 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs8058904
rs8058904
1 1.000 0.040 16 85918076 intron variant A/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs56177354
rs56177354
3 1.000 0.040 16 85899046 upstream gene variant C/T snv 4.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs896263
rs896263
1 1.000 0.040 16 85893913 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7804122
rs7804122
2 0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24 0.010 1.000 1 2019 2019
dbSNP: rs77630070
rs77630070
1 1.000 0.040 6 7196090 intron variant G/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs4235479
rs4235479
1 1.000 0.040 5 60248826 intron variant T/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs72798422
rs72798422
1 1.000 0.040 16 50833006 intergenic variant T/C snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs913678
rs913678
6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs7804185
rs7804185
1 1.000 0.040 7 50313548 intron variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs17552787
rs17552787
1 1.000 0.040 7 50264486 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10267578
rs10267578
1 1.000 0.040 7 50134961 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs10411970
rs10411970
1 1.000 0.040 19 4814636 downstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12629300
rs12629300
LTF
1 1.000 0.040 3 46442045 intron variant A/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs34390431
rs34390431
1 1.000 0.040 3 46423449 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs923621
rs923621
1 1.000 0.040 19 46401543 regulatory region variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs3764613
rs3764613
1 1.000 0.040 19 46392960 3 prime UTR variant A/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs4683205
rs4683205
1 1.000 0.040 3 46293179 regulatory region variant G/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs4493469
rs4493469
1 1.000 0.040 3 46136500 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1491958
rs1491958
1 1.000 0.040 3 46081389 intergenic variant C/T snv 6.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs4683148
rs4683148
1 1.000 0.040 3 45914568 intron variant C/T snv 0.34 0.700 1.000 1 2019 2019