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: rs10109552
rs10109552 		1 1.000 0.040 8 18451300 intergenic variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs1051308
rs1051308
HMOX2 ; CDIP1
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.020 0.500 2 2015 2017
dbSNP: rs1052553
rs1052553
MAPT
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.020 0.500 2 2014 2016
dbSNP: rs10812774
rs10812774
LINGO2
2 0.925 0.040 9 28294233 intron variant T/C snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs10822974
rs10822974
CTNNA3 ; LRRTM3
1 1.000 0.040 10 67090661 intron variant A/G;T snv 0.020 0.500 2 2017 2018
dbSNP: rs10937625
rs10937625
STK32B
1 1.000 0.040 4 5126432 intron variant T/C snv 0.24 0.730 1.000 3 2016 2018
dbSNP: rs1129647
rs1129647
GABRA1
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2006 2006
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.020 1.000 2 2008 2010
dbSNP: rs116920450
rs116920450
CACNA1G
1 1.000 0.040 17 50575769 missense variant G/A;T snv 6.8E-03; 6.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs11856808
rs11856808
LINGO1
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.030 0.667 3 2010 2012
dbSNP: rs1186902
rs1186902
GABRR1
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs12200969
rs12200969
GABRR1
1 1.000 0.040 6 89217247 missense variant T/C snv 0.31 0.37 0.010 1.000 1 2011 2011
dbSNP: rs12720208
rs12720208
FGF20
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs12764057
rs12764057
CTNNA3 ; LRRTM3
1 1.000 0.040 10 67085957 intron variant T/G snv 0.35 0.720 0.667 3 2016 2018
dbSNP: rs13313467
rs13313467
LINGO1
1 1.000 0.040 15 77673826 intron variant C/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs138287627
rs138287627
EWSR1
1 1.000 0.040 22 29297943 missense variant C/T snv 6.8E-05 9.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs138607170
rs138607170
SCN11A
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs146603794
rs146603794
GABRR1
1 1.000 0.040 6 89198164 missense variant A/G snv 5.2E-04 2.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs1472351089
rs1472351089
NTNG1
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1521179
rs1521179
LINGO4
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs16976358
rs16976358
LINC00907
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1721100
rs1721100
FGF20
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17550360
rs17550360
FGF20
1 1.000 0.040 8 16993092 missense variant C/A;T snv 4.0E-05; 5.8E-03 0.010 1.000 1 2016 2016