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: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.800 1.000 1 2018 2018
dbSNP: rs372318863
rs372318863
EXOSC9
3 0.882 0.160 4 121804718 stop gained C/G;T snv 8.0E-06; 2.0E-05 0.700 0