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: rs12196860
rs12196860
COL21A1
2 1.000 0.040 6 56085576 intron variant G/A snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs12201676
rs12201676 		4 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs12282742
rs12282742
SAA2 ; SAA2-SAA4
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2015 2015
dbSNP: rs1249144069
rs1249144069
PITRM1 ; PITRM1-AS1
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs12527359
rs12527359 		2 6 89018502 intergenic variant T/A snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs12745968
rs12745968
DIPK1A
2 1 92936280 intron variant A/G snv 0.36 0.800 1.000 1 2010 2010
dbSNP: rs12807809
rs12807809 		4 0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20 0.720 0.667 3 2014 2017
dbSNP: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12966547
rs12966547
LOC105372125
7 0.827 0.040 18 55084786 intergenic variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs13211507
rs13211507
PGBD1
4 0.882 0.200 6 28289600 intron variant T/C snv 6.4E-02 0.700 1.000 1 2014 2014
dbSNP: rs1341402
rs1341402
DAOA-AS1
2 1.000 0.040 13 105463160 intron variant T/C snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 1.000 10 2011 2018
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 < 0.001 1 2008 2008
dbSNP: rs1421292
rs1421292 		3 0.925 0.040 13 105545886 intergenic variant T/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1535255
rs1535255
CNR1
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1555910162
rs1555910162
SHANK3
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs16147
rs16147
NPY ; LOC107986777
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2009 2009
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.020 1.000 2 2013 2014
dbSNP: rs1655285
rs1655285
TSNAX ; TSNAX-DISC1
1 1 231563728 intron variant G/C snv 9.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs165599
rs165599
ARVCF ; COMT
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs165940
rs165940
PDE4D ; LOC107986348
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005