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: rs4997052
rs4997052
1 1.000 0.040 6 31356367 missense variant T/A;G snv 0.19; 0.21 0.010 1.000 1 2019 2019