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: rs1440306
rs1440306
LOC107986306
1 1.000 0.080 4 116954105 upstream gene variant T/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs556493
rs556493
STXBP5
1 1.000 0.080 6 147228161 intron variant A/C;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs72791417
rs72791417
CTNNA3
1 1.000 0.080 10 65983896 intron variant A/T snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs1245560
rs1245560
SPOCK2
1 1.000 0.080 10 72077662 intron variant A/C snv 0.51 0.710 1.000 1 2011 2011
dbSNP: rs1010419
rs1010419
AGBL1
1 1.000 0.080 15 86992870 intron variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs10152333
rs10152333
AGBL1 ; AGBL1-AS1
1 1.000 0.080 15 86311128 intron variant T/C snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs1049269
rs1049269
SPOCK2
1 1.000 0.080 10 72060243 3 prime UTR variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs2701405
rs2701405
AGBL1
1 1.000 0.080 15 86996687 intron variant C/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs372271081
rs372271081
NBL1 ; MICOS10-NBL1
2 1.000 0.080 1 19647903 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs4829242
rs4829242
IL1RAPL1
1 1.000 0.080 X 29613413 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs5927969
rs5927969
DMD
1 1.000 0.080 X 32331318 intron variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs6526874
rs6526874
IL1RAPL1
1 1.000 0.080 X 29508403 intron variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7887541
rs7887541
DMD
1 1.000 0.080 X 32053387 intron variant T/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs1042606
rs1042606
DUSP5
1 1.000 0.080 10 110510917 3 prime UTR variant A/C snv 0.64 0.010 1.000 1 2020 2020
dbSNP: rs11199993
rs11199993
FGFR2
2 0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs11265269
rs11265269 		1 1.000 0.080 1 159758337 upstream gene variant T/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1128306
rs1128306
HLA-A ; HCG9
2 0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs12290811
rs12290811
TENM4
3 0.882 0.120 11 79372576 intron variant T/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1311223100
rs1311223100
SLC18A1
2 0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1386494
rs1386494
TPH2
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 < 0.001 1 2015 2015
dbSNP: rs1390938
rs1390938
SLC18A1
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2006 2006
dbSNP: rs1457319153
rs1457319153
DAG1
1 1.000 0.080 3 49531991 missense variant A/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1497020
rs1497020
SLC18A1
2 0.925 0.120 8 20144915 3 prime UTR variant G/A snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1610037
rs1610037
ADCYAP1
2 0.925 0.120 18 910634 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2008 2008