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: rs13208321
rs13208321
UFL1-AS1
1 6 96412478 intron variant A/G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1925950
rs1925950
MEF2D
1 1 156480948 missense variant G/A;C snv 0.62 0.800 1.000 2 2012 2016
dbSNP: rs202206511
rs202206511
MEF2D
1 1 156486509 intron variant -/T delins 0.700 1.000 2 2012 2013
dbSNP: rs2506142
rs2506142
NRP1
1 10 33179196 3 prime UTR variant A/G snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs3790455
rs3790455
MEF2D
1 1 156486509 intron variant C/T snv 0.54 0.800 1.000 2 2012 2013
dbSNP: rs7239728
rs7239728
PPP4R1
1 18 9590436 intron variant G/C snv 0.36 0.020 0.500 2 2013 2015
dbSNP: rs7640543
rs7640543
LOC101927995 ; LOC105377013
1 3 30420911 regulatory region variant G/A;T snv 0.810 1.000 2 2012 2014
dbSNP: rs10155855
rs10155855 		1 7 111688341 intergenic variant A/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs10156191
rs10156191
AOC1 ; LOC105375567
1 7 150856517 missense variant C/T snv 0.26 0.33 0.010 1.000 1 2015 2015
dbSNP: rs10156578
rs10156578 		1 9 29372503 intergenic variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10218452
rs10218452
PRDM16 ; LOC105378606
1 1 3159033 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10737909
rs10737909 		1 1 15222140 upstream gene variant G/T snv 0.45 0.800 1.000 1 2013 2013
dbSNP: rs10803531
rs10803531
GPR39
1 2 132469969 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10849061
rs10849061 		1 12 4414290 intergenic variant C/T snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs10871745
rs10871745 		1 18 57511578 intergenic variant A/G snv 0.71 0.700 1.000 1 2016 2016
dbSNP: rs10895275
rs10895275
YAP1
1 11 102212877 intron variant T/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs11017221
rs11017221
LINC02646
1 10 130369801 intron variant C/T snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs11031122
rs11031122
MPPED2
1 11 30525891 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs111404218
rs111404218
LINC01752
1 20 10703511 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11172055
rs11172055 		1 12 56914476 intergenic variant T/A;C snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs11594111
rs11594111
DCLRE1C ; SUV39H2
1 10 14903407 3 prime UTR variant A/G snv 9.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs1160720
rs1160720
NBEA
1 13 35312538 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs11636768
rs11636768
LOC105370955
1 15 87152280 intergenic variant G/A snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs11757063
rs11757063
UFL1-AS1
1 6 96437010 intron variant G/A snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs11777116
rs11777116
LOC107986931
1 8 24186788 intergenic variant C/A;G;T snv 0.800 1.000 1 2013 2013