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: rs10171849
rs10171849
IL1RN
1 2 113108257 intron variant A/C snv 0.35 0.700 1.000 1 2016 2016
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: rs113542380
rs113542380
THADA
5 2 43237679 intron variant G/A snv 4.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs114050631
rs114050631 		5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs12469306
rs12469306
LY75 ; LY75-CD302
1 2 159848974 intron variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 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: rs145013566
rs145013566
PNKD
5 2 218297998 intron variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs149881318
rs149881318
DARS1
1 2 135938202 intron variant T/C snv 5.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs200476039
rs200476039
EML6
3 2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs201399927
rs201399927 		2 2 24377011 intergenic variant TT/-;T;TTT;TTTT delins 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2029582
rs2029582
IL1RN
4 2 113106194 upstream gene variant T/C snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs55799208
rs55799208
CXCR2
5 2 218135259 missense variant G/A snv 1.4E-03 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs6740847
rs6740847 		8 0.925 0.040 2 181443625 intergenic variant A/G snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs72917514
rs72917514
EML6
2 2 54786509 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs7575217
rs7575217
TBC1D8
3 2 101160470 intron variant A/G snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs7587928
rs7587928
KIDINS220
1 2 8808940 intron variant T/C snv 0.29 0.800 1.000 1 2011 2011
dbSNP: rs78107966
rs78107966 		2 2 218197278 upstream gene variant T/C snv 8.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs78487399
rs78487399
THADA
5 2 43582208 intron variant G/C snv 6.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs9287604
rs9287604 		5 2 236867522 intergenic variant G/C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs11359909
rs11359909 		4 3 128603031 intergenic variant G/- delins 0.89 0.700 1.000 1 2016 2016
dbSNP: rs11920354
rs11920354
KIF9-AS1
3 3 47220756 intron variant C/A snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs143699489
rs143699489 		4 3 141208279 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs1567558
rs1567558
PXYLP1
2 3 141289281 intron variant A/G snv 0.50 0.700 1.000 1 2016 2016