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: rs13331259
rs13331259
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 2 2019 2019
dbSNP: rs1004531
rs1004531
1 5 119269328 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs1007934
rs1007934
3 14 72996771 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs10123382
rs10123382
1 9 4757649 intron variant G/A snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs10128757
rs10128757
1 12 64467594 intron variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10131894
rs10131894
2 1.000 0.040 14 74980176 regulatory region variant C/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs10148930
rs10148930
EVL
1 14 100134466 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10182296
rs10182296
NEB ; RIF1
1 2 151515219 intron variant G/A snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs10277403
rs10277403
1 7 47594213 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1041070
rs1041070
1 13 47931358 non coding transcript exon variant C/T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs10411508
rs10411508
1 19 17999765 3 prime UTR variant G/A snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs10414846
rs10414846
3 19 35281568 intron variant C/T snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1044778
rs1044778
1 15 93027556 3 prime UTR variant G/C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10457234
rs10457234
1 6 111137788 intron variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs1045911
rs1045911
1 6 10723216 5 prime UTR variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10463065
rs10463065
1 5 177322927 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1046411
rs1046411
1 10 103078059 3 prime UTR variant G/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1048310
rs1048310
1 22 39517277 3 prime UTR variant T/G snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1049212
rs1049212
PPL
1 16 4882928 3 prime UTR variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10495161
rs10495161
1 1 220963330 regulatory region variant C/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs10496344
rs10496344
1 2 100147663 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10510562
rs10510562
1 3 25340465 intron variant G/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs1064351
rs1064351
1 19 18938389 synonymous variant G/A snv 0.40 0.34 0.700 1.000 1 2019 2019
dbSNP: rs10750385
rs10750385
1 11 128067871 regulatory region variant A/C;G snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs10762861
rs10762861
1 10 79377440 upstream gene variant A/G snv 0.80 0.700 1.000 1 2019 2019