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: rs754092062
rs754092062
2 1.000 0.040 4 54258785 missense variant C/T snv 6.0E-05 9.1E-05 0.010 1.000 1 2019 2019