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: rs1342971994
rs1342971994
1 1.000 0.080 4 89822344 missense variant C/T snv 1.4E-05 0.020 1.000 2 2004 2009