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: rs201201843
rs201201843
PLEKHG2
2 0.925 0.160 19 39416866 missense variant C/T snv 3.6E-04 3.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs569371758
rs569371758
NALCN
1 1.000 0.160 13 101081589 stop gained G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs794726863
rs794726863
NDUFA1 ; RNF113A
3 0.882 0.160 X 119870713 stop gained G/A snv 0.010 1.000 1 2020 2020