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: rs1001494
rs1001494
ST7L
1 1 112567997 intron variant T/C snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs10062757
rs10062757 		1 5 62239297 intergenic variant T/C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs10072221
rs10072221
IQGAP2
1 5 76424719 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10076782
rs10076782
RNF145
1 5 159177955 intron variant G/A snv 0.41 0.800 1.000 1 2011 2011
dbSNP: rs10220411
rs10220411
ACTN1-AS1
2 14 68985371 intron variant A/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs10274553
rs10274553
CTB-30L5.1
1 7 106716200 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs10506328
rs10506328
NFE2
1 12 54293448 intron variant A/C snv 0.75 0.800 1.000 2 2009 2014
dbSNP: rs10512627
rs10512627
KALRN
1 3 124621375 intron variant G/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs1059196
rs1059196
GP1BB ; SEPT5-GP1BB
3 22 19724571 3 prime UTR variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10605167
rs10605167
ENDOD1
1 11 95095304 intron variant TCC/-;TCCTCC delins 0.700 1.000 1 2016 2016
dbSNP: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs10813766
rs10813766
DOCK8
1 9 331490 intron variant T/G snv 0.64 0.800 1.000 1 2011 2011
dbSNP: rs10821556
rs10821556 		1 9 134077014 upstream gene variant C/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs10876550
rs10876550
COPZ1
2 12 54318524 intron variant G/A snv 0.68 0.800 1.000 2 2011 2014
dbSNP: rs10886430
rs10886430
GRK5
3 10 119250744 intron variant A/G snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10900828
rs10900828 		1 5 134500603 upstream gene variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10914144
rs10914144
DNM3
3 1 171980610 intron variant T/C snv 0.78 0.800 1.000 4 2009 2014
dbSNP: rs10940072
rs10940072
MAST4
2 5 66620956 intron variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs10954750
rs10954750
STYXL1
1 7 76035603 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10990535
rs10990535
SLC35D2
1 9 96328727 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs11030122
rs11030122
STIM1
2 11 3865946 intron variant C/G snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs11043280
rs11043280
WDR66
1 12 121988737 intron variant T/C snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012