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: rs104894500
rs104894500
RAB27A
3 0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs145036301
rs145036301
ECSIT
5 0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734
DECR1
5 0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06 0.010 1.000 1 2018 2018