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: rs2246941
rs2246941
LIPA
2 10 89245159 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28476539
rs28476539
SCD5
3 4 82631138 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2979489
rs2979489
RBPMS
6 8 30423317 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2994007
rs2994007 		1 1 36415228 downstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3123543
rs3123543
ATF3
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs34061361
rs34061361
FLT3
5 13 28044450 intron variant AAA/-;A;AA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs34208856
rs34208856
HBS1L
6 6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs34293785
rs34293785 		4 1 65671509 intergenic variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs34891900
rs34891900
BCL2L13
2 22 17680392 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs35272691
rs35272691 		1 17 40001588 downstream gene variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs35955747
rs35955747
DRG1
2 22 31417072 intron variant A/G;T snv 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: rs3917914
rs3917914
CSF3R
5 1 36482287 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397731840
rs397731840
CCDC26
5 8 129599504 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs397933924
rs397933924 		5 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 0.700 1.000 1 2016 2016
dbSNP: rs398032702
rs398032702
C18orf25
4 18 46245574 intron variant AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs4147915
rs4147915
ABCA7
3 19 1049306 synonymous variant C/A;G snv 0.18; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs575404063
rs575404063 		4 19 18405498 intergenic variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs5820258
rs5820258
ARHGAP23
3 17 38437623 intron variant CC/-;C;CCC;CCCC;CCCCC delins 0.700 1.000 1 2016 2016
dbSNP: rs635634
rs635634 		22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6500550
rs6500550
TRAP1
5 16 3696240 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs66538782
rs66538782
PIK3R3 ; P3R3URF-PIK3R3
2 1 46130565 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016