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: rs104893815
rs104893815
4 0.846 0.214 3 30691478 missense variant G/A snp 0.700 2 1999 2005
dbSNP: rs34833812
rs34833812
1 1.000 0.143 3 30672127 missense variant C/T snp 1.1E-03 6.4E-04 0.700 2 1998 2007
dbSNP: rs587776769
rs587776769
1 1.000 0.143 3 30691497 frameshift variant G/GTG in-del 0.700 1 1995 1995