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: rs111033559
rs111033559
4 0.925 0.040 6 118558946 missense variant C/T snv 0.800 1.000 5 2003 2012
dbSNP: rs111033560
rs111033560
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 1.000 6 2003 2017
dbSNP: rs397516784
rs397516784
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 5 2006 2013
dbSNP: rs754782171
rs754782171
1 1.000 0.040 6 118558947 missense variant G/A snv 8.0E-06 0.700 1.000 5 2003 2012