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: rs104894375
rs104894375
SLC25A3
2 1.000 0.040 12 98595490 missense variant G/A snv 0.800 1.000 1 2007 2007