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: rs6499166
rs6499166
SLC7A6 ; SLC7A6OS
1 16 68293014 intron variant G/A snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs10032549
rs10032549
SHROOM3
1 4 76476862 intron variant A/G snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.800 1.000 1 2013 2013
dbSNP: rs17536527
rs17536527 		1 15 45426989 upstream gene variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs4859682
rs4859682
SHROOM3
2 4 76489165 intron variant C/A snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs17126268
rs17126268 		1 1 102260843 intron variant T/C snv 7.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs6066043
rs6066043
SLC13A3
3 1.000 0.080 20 46659814 intron variant G/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 2 2016 2016
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.800 1.000 2 2013 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.800 1.000 2 2013 2016
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.800 1.000 2 2013 2016
dbSNP: rs2712184
rs2712184
LOC101928278
2 2 216818056 intron variant C/A snv 0.56 0.700 1.000 2 2016 2016
dbSNP: rs316009
rs316009
SLC22A2
2 6 160254732 intron variant T/C;G snv 0.700 1.000 2 2016 2016
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.800 1.000 2 2013 2016
dbSNP: rs7208487
rs7208487
FBXL20
4 0.925 0.080 17 39387196 intron variant T/A;G snv 0.800 1.000 2 2012 2016
dbSNP: rs10277115
rs10277115 		2 7 1245559 regulatory region variant A/T snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs1031755
rs1031755
WDR72
1 15 53659238 intron variant A/C snv 0.22 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: rs10774021
rs10774021
SLC6A13
4 1.000 0.080 12 240132 intron variant C/T snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 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