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: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.800 1.000 3 2000 2004
dbSNP: rs121908938
rs121908938
BFSP2 ; BFSP2-AS1
1 1.000 3 133448608 inframe deletion GAA/- delins 0.700 0