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: rs144885874
rs144885874
BCS1L
2 0.925 0.040 2 218661845 missense variant C/T snv 1.2E-05 7.7E-05 0.700 1.000 1 2007 2007