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: rs626277
rs626277
DACH1
5 1.000 0.080 13 71773564 intron variant A/C snv 0.51 0.700 1.000 2 2010 2016
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2016
dbSNP: rs6465825
rs6465825 		4 1.000 0.080 7 77787122 downstream gene variant T/C snv 0.41 0.700 1.000 2 2010 2016
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2016
dbSNP: rs10277115
rs10277115 		2 7 1245559 regulatory region variant A/T snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs1044261
rs1044261
GTPBP4 ; IDI2
3 1.000 0.080 10 1019770 stop gained C/T snv 5.0E-02 6.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs10491967
rs10491967
TSPAN9
2 12 3258927 intron variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10513801
rs10513801
ETV5
3 3 186104564 intron variant T/G snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs10994860
rs10994860
A1CF
5 0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs11180732
rs11180732
LOC105369844
2 12 75889574 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11657044
rs11657044
BCAS3
2 17 61372744 intron variant T/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs11666497
rs11666497
SIPA1L3
2 19 37973622 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs11960179
rs11960179
LOC105379011
2 5 68524390 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs12136063
rs12136063
SYPL2
2 1 109471548 intron variant G/A snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs12975033
rs12975033
IZUMO1
2 19 48746186 intron variant A/T snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs13329952
rs13329952
UMOD
3 1.000 0.080 16 20355185 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs163160
rs163160
KCNQ1
2 11 2768725 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs164748
rs164748
DPEP1
2 16 89641884 downstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs17216707
rs17216707 		6 20 54115823 intergenic variant T/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs1800615
rs1800615
CASP9
2 1 15505786 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs2235808
rs2235808
JPH2
2 20 44187155 5 prime UTR variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs228611
rs228611
MANBA
2 4 102640552 intron variant G/A snv 0.40 0.700 1.000 1 2016 2016