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: rs1422720020
rs1422720020
SMPD1
1 1.000 0.160 11 6393219 frameshift variant -/G delins 0.700 1.000 2 2013 2016