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: rs9970286
rs9970286
DENND2D
2 1 111194776 intron variant G/A;T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs71490394
rs71490394
MTA2 ; EML3
3 11 62602683 missense variant G/A snv 0.26 0.26 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979
NPNT
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs17280293
rs17280293
ADGRG6
2 6 142367832 missense variant A/G snv 3.0E-02 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1799807
rs1799807
BCHE
6 0.925 0.240 3 165830741 missense variant T/C snv 1.2E-02 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs34093919
rs34093919
LTBP4
3 19 40611394 missense variant G/A snv 7.7E-03 7.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs1008833
rs1008833
PIK3C2B
3 1 204457167 intron variant A/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs10919604
rs10919604
MIR181A1HG
1 1 198929028 intron variant A/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10983184
rs10983184
ASTN2
2 9 116471779 intron variant C/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs10998018
rs10998018
MYPN
3 10 68203197 intron variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs1102077
rs1102077 		3 6 139950220 intron variant A/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1107677
rs1107677
LOC101929563
2 9 23587029 intron variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs11134766
rs11134766
ADAM19
2 5 157481309 3 prime UTR variant C/T snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11134789
rs11134789
ADAM19
2 5 157517191 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11165787
rs11165787 		1 1 91915926 intergenic variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs11172113
rs11172113
LRP1
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs11176001
rs11176001 		3 12 66015587 regulatory region variant C/A snv 9.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11191841
rs11191841
STN1
3 10 103879853 3 prime UTR variant T/C snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs11205354
rs11205354
APH1A ; C1orf54
1 1 150276693 intron variant C/A snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs11234768
rs11234768
ME3-DT
2 11 86737797 intron variant T/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs11648508
rs11648508
MMP15
1 16 58029609 intron variant G/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs11722225
rs11722225
INTS12 ; GSTCD
5 4 105845273 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11858992
rs11858992
CFDP1
2 16 75377547 intron variant A/C snv 0.52 0.700 1.000 1 2019 2019