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: rs36027220
rs36027220
EXOSC8 ; SUPT20H
1 1.000 13 37009283 missense variant G/C snv 3.9E-03 4.0E-03 0.800 1.000 1 2014 2014
dbSNP: rs606231285
rs606231285
EXOSC8 ; ALG5
1 1.000 13 37000810 missense variant C/G;T snv 0.800 0