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: rs13122395
rs13122395
EMCN
2 1.000 0.040 4 100829496 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs11123857
rs11123857
NPAS2
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs188843168
rs188843168
ATP5MD
3 0.925 0.040 10 103390184 intron variant T/A;C snv 4.3E-04 0.700 1.000 1 2016 2016
dbSNP: rs11599236
rs11599236
SORCS3
2 1.000 0.040 10 104694914 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1490176
rs1490176
SORCS3
2 1.000 0.040 10 104800467 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1322281
rs1322281
PTPRD
2 1.000 0.040 9 10582445 intron variant T/C snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs7912226
rs7912226 		2 1.000 0.040 10 105892386 intron variant T/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs12030991
rs12030991 		2 1.000 0.040 1 106683737 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2287161
rs2287161
MTERF2
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2090408
rs2090408 		2 1.000 0.040 3 107479604 intergenic variant G/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs836927
rs836927 		2 1.000 0.040 3 107482581 intergenic variant C/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs13060816
rs13060816
BBX
2 1.000 0.040 3 107561639 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs600011
rs600011
BBX
2 1.000 0.040 3 107576545 intron variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs11608355
rs11608355
MYO1H
2 1.000 0.040 12 109441487 intron variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs2396133
rs2396133 		2 1.000 0.040 7 109557010 intron variant A/G snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs4839421
rs4839421
CYMP
3 0.925 0.040 1 110479338 intron variant C/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs1940709
rs1940709
NCAM1
2 1.000 0.040 11 112978997 intron variant G/A snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs1940728
rs1940728
NCAM1
2 1.000 0.040 11 112981473 intron variant G/A;T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs72995548
rs72995548
NCAM1 ; NCAM1-AS1
2 1.000 0.040 11 113268199 non coding transcript exon variant C/T snv 3.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs2298489
rs2298489
TTC12
2 1.000 0.040 11 113364697 splice region variant A/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs11214589
rs11214589
TTC12
2 1.000 0.040 11 113374326 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801028
rs1801028
DRD2
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs11214607
rs11214607
DRD2
2 1.000 0.040 11 113441417 intron variant T/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs10891564
rs10891564 		2 1.000 0.040 11 113503291 intergenic variant G/A snv 0.34 0.700 1.000 1 2018 2018