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: rs11434755
rs11434755 		1 11 18045473 upstream gene variant -/A delins 0.41 0.700 1.000 1 2018 2018
dbSNP: rs34729281
rs34729281
SUGP2
2 19 19009572 intron variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs562306828
rs562306828 		1 20 45928576 non coding transcript exon variant -/G;GAG;GAGAG ins 0.700 1.000 1 2018 2018
dbSNP: rs151105710
rs151105710
STAG1
1 3 136406836 intron variant -/GAATTAAA delins 0.16 0.700 1.000 1 2018 2018
dbSNP: rs3832016
rs3832016
CELSR2
4 1 109275536 3 prime UTR variant -/T ins 0.74 0.700 1.000 1 2018 2018
dbSNP: rs34696509
rs34696509
UVRAG
1 11 75841535 intron variant A/-;AA delins 0.18 0.700 1.000 1 2018 2018
dbSNP: rs34879232
rs34879232
SARM1 ; SLC46A1
1 17 28395021 3 prime UTR variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs2740488
rs2740488
ABCA1
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 5 2015 2019
dbSNP: rs11216126
rs11216126 		4 1.000 0.040 11 116746524 downstream gene variant A/C snv 0.11 0.800 1.000 2 2011 2019
dbSNP: rs4665710
rs4665710 		6 2 20998163 downstream gene variant A/C snv 0.76 0.700 1.000 2 2018 2019
dbSNP: rs10091038
rs10091038 		1 8 29502788 intergenic variant A/C snv 0.57 0.700 1.000 1 2018 2018
dbSNP: rs11078917
rs11078917 		2 17 39590106 intergenic variant A/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs111439884
rs111439884
RBM6
1 3 49986605 intron variant A/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs1117816
rs1117816
TMPRSS11E
1 4 68483300 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs13076253
rs13076253
CPNE4
1 3 132032931 intron variant A/C snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs146524044
rs146524044
MYO5B
2 18 50057046 intron variant A/C snv 1.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs192489212
rs192489212
CEP164
1 11 117349713 intron variant A/C snv 9.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs353616
rs353616
CD44
2 11 35155029 intron variant A/C snv 1.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs3858076
rs3858076
ABCA1
3 9 104893841 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs480392
rs480392
NTNG1
3 1 107436774 synonymous variant A/C snv 0.99 0.95 0.700 1.000 1 2012 2012
dbSNP: rs4805881
rs4805881
PEPD
3 19 33405526 intron variant A/C snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs643830
rs643830
NCAM1
2 11 113235826 intron variant A/C snv 1.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs6726798
rs6726798
VIL1
3 2 218436132 intron variant A/C snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs6810819
rs6810819
NOCT
2 4 139015171 upstream gene variant A/C snv 3.4E-02 0.700 1.000 1 2012 2012