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: rs2378672
rs2378672
NTRK2
1 1.000 0.040 9 85016119 intron variant C/T snv 0.93 0.010 1.000 1 2008 2008
dbSNP: rs28521337
rs28521337
NTRK3
1 1.000 0.040 15 87978049 3 prime UTR variant C/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs28696717
rs28696717 		1 1.000 0.040 1 153493087 intergenic variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs297941
rs297941
LINC02395
1 1.000 0.040 12 49925303 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs301435
rs301435
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4582843 intron variant T/C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs3780413
rs3780413
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4567353 intron variant C/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs3785817
rs3785817
GRN
1 1.000 0.040 17 44346297 intron variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs3933331
rs3933331 		1 1.000 0.040 9 4389941 upstream gene variant G/C snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs4387163
rs4387163 		1 1.000 0.040 1 165026476 intergenic variant G/A snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4401971
rs4401971 		1 1.000 0.040 9 11890045 intron variant A/C;G;T snv 0.800 1.000 1 2015 2015
dbSNP: rs4625687
rs4625687
MEIS2
1 1.000 0.040 15 37072053 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4652867
rs4652867
DLGAP3
1 1.000 0.040 1 34901689 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs4740788
rs4740788 		1 1.000 0.040 9 4481668 intergenic variant T/C snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs56151798
rs56151798
TPH1
1 1.000 0.040 11 18022863 synonymous variant A/G snv 6.0E-03 6.4E-03 0.010 1.000 1 1999 1999
dbSNP: rs6109227
rs6109227 		1 1.000 0.040 20 12018497 intergenic variant A/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131293
rs6131293 		1 1.000 0.040 20 12014779 intergenic variant A/G snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131295
rs6131295 		1 1.000 0.040 20 12015619 regulatory region variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs6443930
rs6443930
HTR3D
1 1.000 0.040 3 184036506 splice donor variant G/A;C;T snv 0.46; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6662980
rs6662980
DLGAP3
1 1.000 0.040 1 34894477 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7541937
rs7541937
DLGAP3
1 1.000 0.040 1 34876381 intron variant T/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs7628229
rs7628229
HTR3D
1 1.000 0.040 3 184036872 missense variant C/G;T snv 6.4E-06; 2.7E-03 9.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs8190748
rs8190748
GAD2
1 1.000 0.040 10 26280826 intron variant A/G snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs301434
rs301434
SLC1A1 ; SPATA6L
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.040 1.000 4 2006 2019
dbSNP: rs762178
rs762178
OLIG2
2 0.925 0.040 21 33027093 synonymous variant A/G snv 0.51 0.53 0.030 1.000 3 2007 2019
dbSNP: rs3087879
rs3087879
SLC1A1 ; SPATA6L
2 0.925 0.080 9 4586808 3 prime UTR variant G/C snv 0.28 0.020 1.000 2 2013 2018