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: rs4236746
rs4236746 		1 8 129687615 non coding transcript exon variant A/G snv 0.99 0.700 1.000 1 2019 2019
dbSNP: rs1516527
rs1516527
CPA3
1 3 148891917 intron variant T/C snv 0.97 0.700 1.000 1 2019 2019
dbSNP: rs1859161
rs1859161 		1 4 105121535 downstream gene variant C/T snv 0.95 0.700 1.000 1 2019 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs7537229
rs7537229 		4 1 56440602 intron variant G/A snv 0.92 0.700 1.000 1 2016 2016
dbSNP: rs177251
rs177251
PCBD2 ; CATSPER3
1 5 135007779 intron variant G/A snv 0.92 0.700 1.000 1 2019 2019
dbSNP: rs1013910
rs1013910 		1 1 116868761 intergenic variant G/A snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs1994712
rs1994712
SLC35A5
1 3 112585396 3 prime UTR variant T/C snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs11359909
rs11359909 		4 3 128603031 intergenic variant G/- delins 0.89 0.700 1.000 1 2016 2016
dbSNP: rs10195713
rs10195713 		1 2 157664393 intergenic variant C/T snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs360124
rs360124
SBF2 ; SBF2-AS1 ; LOC105369149
1 11 9780681 non coding transcript exon variant G/C snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs762679
rs762679
MCM4
4 8 47972876 missense variant T/A snv 0.87 0.88 0.700 1.000 1 2019 2019
dbSNP: rs3735485
rs3735485
MYO1G
6 7 44969742 missense variant A/G snv 0.87 0.88 0.700 1.000 1 2016 2016
dbSNP: rs2514594
rs2514594
SAMD12
1 8 118612910 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs2338224
rs2338224 		5 5 72432861 intergenic variant A/G snv 0.85 0.700 1.000 1 2016 2016
dbSNP: rs60606273
rs60606273 		5 15 64362768 intron variant A/T snv 0.84 0.700 1.000 1 2016 2016
dbSNP: rs2695478
rs2695478
MPHOSPH9
1 12 123204974 intron variant C/T snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs7781571
rs7781571 		1 7 106787724 intron variant A/G snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs12550612
rs12550612
TNFRSF10C
5 8 23109256 intron variant G/A snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs990211
rs990211
NCKIPSD
1 3 48683607 intron variant A/G snv 0.83 0.700 1.000 1 2019 2019
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs697852
rs697852
ITPKB
3 1 226727033 intron variant G/A snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs2114718
rs2114718 		1 15 70640951 downstream gene variant G/A snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs1586068
rs1586068
IKZF2
2 2 213033508 intron variant A/G snv 0.81 0.700 1.000 1 2016 2016
dbSNP: rs301161
rs301161
EMC8
2 16 85776743 intron variant G/A snv 0.81 0.700 1.000 1 2016 2016