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: rs199476408
rs199476408
4 0.851 0.040 10 68165803 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014