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: rs761100
rs761100
KIAA0319
1 1.000 0.120 6 24632414 intron variant A/C snv 0.61 0.010 1.000 1 2006 2006
dbSNP: rs779153680
rs779153680
CTNND2
1 1.000 0.120 5 10988165 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs793842
rs793842
DCDC2
1 1.000 0.120 6 24224260 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs793862
rs793862
DCDC2
1 1.000 0.120 6 24206972 intron variant A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs796503097
rs796503097
CEP63
1 1.000 0.120 3 134545716 missense variant GC/TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs882294
rs882294
ALG1 ; NAGPA-AS1
1 1.000 0.120 16 5042117 5 prime UTR variant T/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs987456
rs987456
CNTNAP2 ; LOC105375554
1 1.000 0.120 7 148415895 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2018 2018