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: rs397515624
rs397515624
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011