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: rs397514767
rs397514767
7 0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06 0.020 1.000 2 2015 2018