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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.060 1.000 6 2001 2016
dbSNP: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 < 0.001 1 2012 2012