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: rs10787429
rs10787429
GPAM
2 10 112189906 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11124554
rs11124554
STRN
2 2 36922355 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs111532669
rs111532669
PTCH1
2 9 95446682 3 prime UTR variant C/T snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs13247499
rs13247499
JAZF1
2 7 28139639 intron variant C/A snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs144983009
rs144983009 		2 5 56792072 intergenic variant C/T snv 5.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1658972
rs1658972 		2 9 6665010 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17801127
rs17801127
MMADHC-DT
2 2 149707970 intron variant C/T snv 8.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs185355701
rs185355701
LINC01016 ; LOC105375026
2 6 33893066 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs200088103
rs200088103
GPT ; LOC101928953
2 8 144505033 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs201022
rs201022 		2 6 6669940 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2024641
rs2024641 		2 22 35734507 downstream gene variant G/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs2383733
rs2383733 		2 9 27869512 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs45587331
rs45587331
PIK3AP1
2 10 96700824 non coding transcript exon variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs4979372
rs4979372
AKNA
2 9 114377802 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs62269283
rs62269283
TM4SF4
2 3 149494481 intron variant G/A snv 1.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs7122144
rs7122144 		2 11 129520077 intergenic variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs73186036
rs73186036
N6AMT1
2 21 28754160 regulatory region variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs754465
rs754465
DLG5
2 10 77920756 intron variant C/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs76861960
rs76861960 		2 16 77565542 intergenic variant T/C snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs7803882
rs7803882 		2 7 55869748 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs8108722
rs8108722 		2 19 10236408 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs8182496
rs8182496 		2 19 31643033 intergenic variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs9436480
rs9436480
CDCP2
2 1 54151583 intron variant A/G snv 8.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs9601485
rs9601485 		2 13 80901307 intron variant C/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs9940874
rs9940874
MARF1
2 16 15634417 intron variant T/C snv 0.18 0.700 1.000 1 2019 2019