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: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs3127573
rs3127573
SLC22A2
2 6 160260361 5 prime UTR variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs4805834
rs4805834
CEP89
2 19 32962753 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs8068318
rs8068318
TBX2
6 17 61406405 non coding transcript exon variant C/T snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs9992101
rs9992101
SHROOM3
2 4 76439278 intron variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs10262995
rs10262995
BBS9
1 7 33510429 intron variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs13317787
rs13317787
LMCD1-AS1
1 3 8100265 intron variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs2789047
rs2789047 		1 6 120868656 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3925584
rs3925584
LOC101928338
7 1.000 0.080 11 30738788 intergenic variant T/C snv 0.35 0.700 1.000 3 2016 2019
dbSNP: rs2467853
rs2467853
SPATA5L1
4 1.000 0.080 15 45406595 intron variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs3850625
rs3850625
CACNA1S
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 2 2016 2017
dbSNP: rs716877
rs716877
DACH1
2 13 71773316 intron variant C/G snv 0.43 0.700 1.000 2 2016 2018
dbSNP: rs807601
rs807601 		2 2 15652890 intergenic variant G/T snv 0.48 0.700 1.000 2 2016 2017
dbSNP: rs963837
rs963837
LINC02859 ; LOC101928338
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 2 2016 2018
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