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: rs121908315
rs121908315
PIP5K1C
1 1.000 0.120 19 3653454 missense variant C/T snv 0.800 1.000 1 2007 2007