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: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12469063
rs12469063
MEIS1
2 0.925 0.080 2 66537176 intron variant A/G snv 0.18 0.700 1.000 1 2007 2007
dbSNP: rs1983167
rs1983167 		1 1.000 0.080 X 42989135 regulatory region variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs4236060
rs4236060
BTBD9
1 1.000 0.080 6 38502311 intron variant C/T snv 0.22 0.700 1.000 1 2007 2007
dbSNP: rs4714156
rs4714156
BTBD9
2 0.925 0.120 6 38393336 intron variant C/T snv 0.36 0.700 1.000 1 2007 2007
dbSNP: rs6904723
rs6904723
BTBD9
1 1.000 0.080 6 38468541 intron variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs6923737
rs6923737
BTBD9
1 1.000 0.080 6 38515788 intron variant T/C snv 0.28 0.700 1.000 1 2007 2007
dbSNP: rs7881785
rs7881785 		1 1.000 0.080 X 42995357 upstream gene variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs35041767
rs35041767
PTPRD
1 1.000 0.080 9 9261737 intron variant -/C ins 0.700 1.000 1 2008 2008
dbSNP: rs1975197
rs1975197
PTPRD
1 1.000 0.080 9 8846955 intron variant G/A snv 0.16 0.810 1.000 3 2008 2011
dbSNP: rs138915427
rs138915427
PTPRD
1 1.000 0.080 9 8341723 missense variant C/A;G;T snv 4.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs6747972
rs6747972 		1 1.000 0.080 2 67843093 intergenic variant A/G snv 0.65 0.810 1.000 1 2011 2011
dbSNP: rs1052553
rs1052553
MAPT
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1800652
rs1800652
FXN
1 1.000 0.080 9 69046200 intron variant G/A snv 0.24 0.010 < 0.001 1 2013 2013
dbSNP: rs4626664
rs4626664
PTPRD
1 1.000 0.080 9 9261737 intron variant G/A snv 0.20 0.820 1.000 3 2008 2014
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2412646
rs2412646
CLOCK ; TMEM165
3 0.882 0.120 4 55452605 3 prime UTR variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs3794087
rs3794087
SLC1A2
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.010 < 0.001 1 2014 2014
dbSNP: rs41305272
rs41305272
MAP2K5
6 0.851 0.120 15 67807105 3 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs693534
rs693534
NOS1
2 1.000 0.080 12 117346913 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015