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: rs4081134
rs4081134
MEG3
7 0.790 0.160 14 100855451 non coding transcript exon variant G/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs745805222
rs745805222
IGF1
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs10895322
rs10895322
MMP20
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.710 1.000 1 2017 2017
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2016 2016
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs41274458
rs41274458
KIF1B
4 0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs758576072
rs758576072
RIMS2
4 0.851 0.160 8 104244917 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2302616
rs2302616
ODC1 ; SNORA80B ; ODC1-DT
3 0.882 0.080 2 10448065 intron variant C/A snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs72990858
rs72990858 		1 1.000 0.040 6 104699909 intergenic variant G/A snv 7.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs4336470
rs4336470
HACE1
1 1.000 0.040 6 104732910 intron variant C/T snv 0.45 0.800 1.000 1 2012 2012
dbSNP: rs9404576
rs9404576
HACE1
3 0.882 0.160 6 104736765 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs4079063
rs4079063
HACE1
1 1.000 0.040 6 104818243 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2499663
rs2499663
HACE1
1 1.000 0.040 6 104852695 intron variant C/T snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs2499667
rs2499667
LIN28B-AS1
1 1.000 0.040 6 104871250 intron variant G/A snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs143864187
rs143864187
CASP4
3 0.882 0.080 11 104949666 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs17065417
rs17065417
LIN28B
3 0.882 0.080 6 104958399 intron variant A/C snv 0.10 0.810 1.000 2 2012 2017
dbSNP: rs221634
rs221634
LIN28B
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.020 1.000 2 2016 2017
dbSNP: rs4884357
rs4884357
TARDBP
6 0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019
dbSNP: rs148634289
rs148634289
SDHD
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs397507509
rs397507509
PTPN11
9 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2273267
rs2273267
NRAS ; CSDE1
4 0.882 0.080 1 114716848 upstream gene variant A/C;T snv 0.010 1.000 1 2020 2020