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: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs7190256
rs7190256
ZFHX3
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs6461992
rs6461992
HOXA10 ; HOXA11 ; HOXA10-HOXA9
5 1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs4722675
rs4722675
HOTTIP
4 7 27204343 intron variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs3735533
rs3735533
HOTTIP
4 7 27206274 non coding transcript exon variant T/C snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs6565174
rs6565174
LOC101928595
2 16 30100583 intron variant A/C snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs4551692
rs4551692
PAX2
2 10 100796696 intron variant G/A snv 0.91 0.700 1.000 1 2017 2017
dbSNP: rs5883070
rs5883070 		5 7 27240226 intron variant -/AAAACA;AACA delins 0.91 0.700 1.000 1 2018 2018
dbSNP: rs2023843
rs2023843
HOTTIP
2 7 27203602 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs10255839
rs10255839
EVX1
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs2999159
rs2999159
MOV10
4 1 112688136 intron variant A/G snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs72704264
rs72704264
CD160
1 1 145721780 intron variant G/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs4834735
rs4834735
SYNPO2
1 4 119037654 3 prime UTR variant T/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs342989
rs342989 		1 7 35428286 intergenic variant A/G snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs2881854
rs2881854
ENPEP
2 4 110422107 intron variant C/A snv 0.83 0.700 1.000 1 2018 2018
dbSNP: rs6551716
rs6551716 		1 4 62709978 regulatory region variant T/A snv 0.83 0.700 1.000 1 2018 2018
dbSNP: rs7592578
rs7592578
NEMP2 ; LOC105376748
1 2 190574865 regulatory region variant T/G snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs1215469
rs1215469
LOC105370275
1 13 80133273 intron variant A/C snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs3745318
rs3745318
KLF2
2 1.000 0.080 19 16325451 missense variant T/C snv 0.75 0.82 0.700 1.000 1 2018 2018
dbSNP: rs284844
rs284844
WBP1L
3 10 102794772 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs261332
rs261332
LIPC ; ALDH1A2 ; LIPC-AS1
20 0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
5 1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79 0.700 1.000 1 2019 2019
dbSNP: rs4757391
rs4757391
SOX6
2 11 16281393 intron variant C/T snv 0.78 0.700 1.000 2 2015 2017
dbSNP: rs9971406
rs9971406
SOX6
1 11 16256743 intron variant G/T snv 0.78 0.700 1.000 1 2018 2018