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: rs10173538
rs10173538
BAZ2B ; MARCHF7
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10206089
rs10206089 		4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11405616
rs11405616
NDFIP1
4 5 142130697 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11428934
rs11428934
CA11 ; SEC1P
4 19 48640988 intron variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs1144700
rs1144700
ATXN1
5 6 16744456 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11734460
rs11734460
PCGF3
4 4 711285 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11741826
rs11741826
CCDC125
3 5 69294573 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12600856
rs12600856 		5 17 40007042 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs139707092
rs139707092
SPC25 ; NOSTRIN
5 2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 0.700 1.000 1 2016 2016
dbSNP: rs14408
rs14408
IFITM2
4 11 308314 missense variant T/C;G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
PNKD
5 2 218297998 intron variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs146318841
rs146318841
AHI1
4 6 135328483 intron variant TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG delins 0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
5 18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022
C11orf65
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1968252
rs1968252
LOC105372263
5 19 7782850 upstream gene variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1969949
rs1969949
DOCK8
3 9 305428 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs201950044
rs201950044 		5 1 161639782 intergenic variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs2208568
rs2208568
LINC02768 ; LOC105373215
5 1 235926855 intergenic variant T/A;C;G 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: 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: 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: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 1 2016 2016