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: rs751163782
rs751163782
RAB28
5 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778
RAB28
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs398123009
rs398123009
PACS1
19 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0