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: rs730882229
rs730882229
PTPN23
3 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs730882242
rs730882242
DIAPH1
7 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs80359826
rs80359826
SLC2A1
7 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
4 0.925 0.120 11 66529902 frameshift variant -/T delins 0.700 0
dbSNP: rs10030601
rs10030601
IQCM
1 1.000 0.040 4 149804060 intron variant T/C snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs10496964
rs10496964 		2 0.925 0.040 2 144602342 intergenic variant C/T snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs12059546
rs12059546
CHRM3
2 0.925 0.040 1 239806797 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs13026414
rs13026414
LOC101927235 ; LOC105377632
1 1.000 0.040 2 57706920 intergenic variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs2717068
rs2717068 		1 1.000 0.040 2 57867738 intergenic variant A/C snv 0.70 0.800 1.000 1 2012 2012
dbSNP: rs39861
rs39861
MAST4
1 1.000 0.040 5 66856430 intron variant A/G snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs72823592
rs72823592
COPZ2
2 0.925 0.040 17 48045642 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs771390
rs771390
LOC105378639
1 1.000 0.040 1 34285335 intergenic variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs111577701
rs111577701 		1 1.000 0.040 3 168143620 intergenic variant C/T snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs111908689
rs111908689 		1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11214136
rs11214136
BCO2
1 1.000 0.040 11 112211286 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs11663316
rs11663316 		2 1.000 0.040 18 9027916 intergenic variant T/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1178326
rs1178326
HDAC9
2 1.000 0.040 7 18195234 intron variant T/C snv 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs118166657
rs118166657 		2 1.000 0.040 14 63580544 intergenic variant C/G snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs12204701
rs12204701 		1 1.000 0.040 6 4644367 regulatory region variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs12668095
rs12668095
LOC105375268
2 1.000 0.040 7 47036178 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs13287547
rs13287547
C9orf92
2 1.000 0.040 9 16286892 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs1394074
rs1394074
OLFML3
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019