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: rs111033591
rs111033591
2 0.925 0.160 12 868697 stop gained C/T snv 1.6E-05 2.1E-05 0.700 1.000 1 2005 2005
dbSNP: rs137852735
rs137852735
3 0.882 0.160 12 868745 frameshift variant -/A delins 0.700 1.000 1 2004 2004