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: rs770601673
rs770601673
RAB27A
1 1.000 0.320 15 55234786 frameshift variant C/- del 2.0E-05 7.0E-06 0.700 1.000 5 2000 2015
dbSNP: rs1058219
rs1058219
MYO5A
1 1.000 0.320 15 52351367 missense variant G/A snv 0.16 0.15 0.010 < 0.001 1 2000 2000
dbSNP: rs119473031
rs119473031
MLPH
3 0.882 0.320 2 237493529 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2012 2012