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: rs121918297
rs121918297
FERMT3
2 0.925 0.080 11 64223094 stop gained C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs185974234
rs185974234
MARK2
1 1.000 11 63904988 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs200262332
rs200262332
MARK2
1 1.000 11 63904826 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010