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: rs72466451
rs72466451
HSPD1 ; HSPE1 ; HSPE1-MOB4
2 0.925 0.160 2 197498763 missense variant T/C snv 0.800 0
dbSNP: rs1564617866
rs1564617866
POLR3A
7 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0