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: rs9467075
rs9467075
DCDC2
2 0.925 0.120 6 24205008 synonymous variant G/A snv 0.13 0.14 0.010 1.000 1 2017 2017
dbSNP: rs3779031
rs3779031
CNTNAP2
1 1.000 0.120 7 148229642 splice region variant A/G snv 0.22 0.18 0.010 1.000 1 2018 2018
dbSNP: rs9313548
rs9313548 		2 0.925 0.120 5 171534296 TF binding site variant C/T snv 0.56 0.010 1.000 1 2018 2018
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
dbSNP: rs201605
rs201605
MYH3
1 1.000 0.120 17 10663547 upstream gene variant T/C snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs349045
rs349045
LYPD5
1 1.000 0.120 19 43795740 intron variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs793842
rs793842
DCDC2
1 1.000 0.120 6 24224260 intron variant T/A;C snv 0.010 1.000 1 2019 2019