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: rs111033570
rs111033570
4 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.700 1.000 4 2002 2013
dbSNP: rs759376012
rs759376012
1 1.000 0.120 9 116698849 frameshift variant A/- delins 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs111033571
rs111033571
2 0.925 0.120 9 116698130 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0