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: rs121912670
rs121912670
2 0.925 0.120 2 232542992 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 2 2006 2006