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: rs753508874
rs753508874
SMPD1
3 0.925 0.160 11 6393985 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2003 2003