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: rs121434590
rs121434590
3 0.882 0.240 17 10406924 missense variant C/T snv 1.4E-05 0.820 1.000 4 2004 2017