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: rs200726463
rs200726463
PLCL2
1 3 16992491 intron variant -/AG delins 7.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs112908525
rs112908525
CD36
3 7 80675962 intron variant -/GGGTTGAGA delins 0.38 0.700 1.000 1 2016 2016
dbSNP: rs113700287
rs113700287
THRB
4 3 24293020 intron variant -/GTT delins 0.700 1.000 1 2016 2016
dbSNP: rs66567989
rs66567989
TYMS
2 18 660442 intron variant A/- del 0.11 0.700 1.000 1 2016 2016
dbSNP: rs533649954
rs533649954
RAB11B-AS1
1 19 8387490 intron variant A/-;AA delins 3.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs67250268
rs67250268
H2AC6
4 6 26135269 intron variant A/-;AA delins 0.700 1.000 1 2012 2012
dbSNP: rs141007801
rs141007801
CASC15
2 6 21722558 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs592423
rs592423 		6 6 139519556 intron variant A/C snv 0.50 0.700 1.000 2 2016 2017
dbSNP: rs11078917
rs11078917 		2 17 39590106 intergenic variant A/C snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs13011075
rs13011075 		1 2 68412181 intergenic variant A/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs138665726
rs138665726
UBE2L3
3 22 21563570 intron variant A/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs1578741
rs1578741 		2 1 117716081 intergenic variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17700466
rs17700466 		2 7 93006659 regulatory region variant A/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs2713936
rs2713936
TEX9
2 15 56253787 intron variant A/C snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs2923427
rs2923427
SLC20A2
1 8 42530605 intron variant A/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs34282584
rs34282584
SLC6A9
1 1 44022794 intron variant A/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs3893275
rs3893275
LOC105374303
2 3 196192085 regulatory region variant A/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs75085022
rs75085022
ZFAND4
1 10 45633821 intron variant A/C snv 6.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs9357371
rs9357371
MED20
4 6 41917581 5 prime UTR variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11153147
rs11153147
ARMC2
1 6 108982855 downstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11627546
rs11627546
SMOC1
2 14 69899207 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs13091206
rs13091206
CCDC36
2 3 49201285 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs13108419
rs13108419
TMEM155 ; PP12613
1 4 121766083 non coding transcript exon variant A/C;G snv 2.3E-05; 0.42 0.700 1.000 1 2018 2018