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: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs112591851
rs112591851
1 1.000 0.040 19 51749131 intron variant C/T snv 2.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs1132358
rs1132358
3 1.000 0.040 16 1347814 synonymous variant C/T snv 0.44 0.39 0.010 1.000 1 2013 2013
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1163085
rs1163085
INA
1 1.000 0.040 10 103279484 intron variant G/A snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs11663050
rs11663050
1 1.000 0.040 18 37621190 intron variant T/G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs11669576
rs11669576
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1202184
rs1202184
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs12145083
rs12145083
1 1.000 0.040 1 197853864 intergenic variant T/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs12188167
rs12188167
1 1.000 0.040 5 88370488 intron variant C/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs12260436
rs12260436
1 1.000 0.040 10 102981357 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs12484971
rs12484971
1 1.000 0.040 22 41043300 upstream gene variant A/T snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1248860
rs1248860
2 1.000 0.040 3 84966628 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs12765002
rs12765002
2 1.000 0.040 10 102875591 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1277240795
rs1277240795
OGA
2 1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12923795
rs12923795
1 1.000 0.040 16 7612705 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs12957516
rs12957516
1 1.000 0.040 18 37635554 intron variant C/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs1296171
rs1296171
1 1.000 0.040 1 226871905 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13094915
rs13094915
1 1.000 0.040 3 52473703 intron variant G/A;C snv 1.0E-04; 0.42 0.700 1.000 1 2018 2018
dbSNP: rs13262595
rs13262595
3 1.000 0.040 8 142235609 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13282237
rs13282237
1 1.000 0.040 8 142244830 intron variant A/G snv 0.55 0.700 1.000 1 2018 2018