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: rs10048745
rs10048745
ARHGAP25
2 2 68735005 5 prime UTR variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs10058074
rs10058074
MIR3936HG
3 5 132350453 intron variant G/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs1006409
rs1006409
FAR2 ; LOC100506606
1 12 29282742 non coding transcript exon variant A/G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs10075570
rs10075570
RNF145
1 5 159172350 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10132160
rs10132160
RCOR1
1 14 102591686 upstream gene variant A/G snv 0.80 0.700 1.000 1 2018 2018
dbSNP: rs10199109
rs10199109
LOC105373583
1 2 120236957 upstream gene variant G/T snv 0.75 0.700 1.000 1 2016 2016
dbSNP: rs10220411
rs10220411
ACTN1-AS1
2 14 68985371 intron variant A/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1034564
rs1034564
ARVCF
1 22 19996490 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs1034566
rs1034566
ARVCF
1 22 19996754 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10431427
rs10431427
MRPL42
1 12 93489363 intron variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs10466905
rs10466905 		3 12 6393666 upstream gene variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1050316
rs1050316
MEF2D
3 1 156464911 3 prime UTR variant G/T snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10512472
rs10512472
SLFN14
1 17 35557785 missense variant T/C snv 0.21 0.19 0.800 1.000 1 2011 2011
dbSNP: rs10514301
rs10514301
LINC00461
2 5 88643836 intron variant C/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1059196
rs1059196
GP1BB ; SEPT5-GP1BB
3 22 19724571 3 prime UTR variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs1060431
rs1060431
SLC25A11
2 17 4937573 3 prime UTR variant G/A snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2016 2016
dbSNP: rs10661645
rs10661645
NAA25
1 12 112086916 intron variant -/GAG;GGAG delins 0.95 0.700 1.000 1 2016 2016
dbSNP: rs10757287
rs10757287 		1 9 22143571 regulatory region variant A/T snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10761731
rs10761731
JMJD1C
6 10 63267850 intron variant A/T snv 0.38 0.800 1.000 3 2011 2019
dbSNP: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs10769960
rs10769960
DENND2B ; LOC102724784
1 11 8797456 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs10811664
rs10811664 		1 9 22142908 regulatory region variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10820606
rs10820606 		2 9 96430637 intergenic variant A/C snv 0.23 0.700 1.000 1 2016 2016