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: rs749205120
rs749205120
3 1.000 0.080 8 132180245 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 2012 2013