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: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs11598177
rs11598177 		1 1.000 0.040 10 101220399 regulatory region variant T/C snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs1322332
rs1322332 		1 1.000 0.040 10 101222891 downstream gene variant T/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1407409
rs1407409 		1 1.000 0.040 10 101225650 upstream gene variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs1535462
rs1535462 		1 1.000 0.040 10 101214115 TF binding site variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs200590764
rs200590764 		1 1.000 0.040 10 101216904 intergenic variant -/T delins 6.6E-03 0.700 1.000 1 2011 2011
dbSNP: rs3950032
rs3950032 		1 1.000 0.040 10 101214352 TF binding site variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs76319884
rs76319884 		1 1.000 0.040 10 101216249 intergenic variant C/G snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs7914775
rs7914775 		1 1.000 0.040 10 101216904 intergenic variant C/T snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs1569324457
rs1569324457
ASXL1
7 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
dbSNP: rs797045412
rs797045412
BICD2
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs2281894
rs2281894
CELSR2
1 1.000 0.040 1 109267922 synonymous variant C/A snv 0.22 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1057518891
rs1057518891
CHD7
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs1568097
rs1568097
CHL1-AS2
1 1.000 0.040 3 138468 intron variant T/C snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1588962
rs1588962
CHL1-AS2
1 1.000 0.040 3 142352 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011