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: rs371228501
rs371228501
1 1.000 0.040 7 55191740 missense variant C/T snv 6.8E-05 1.2E-04 0.010 1.000 1 2011 2011