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: rs74315339
rs74315339
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.020 1.000 2 2005 2005
dbSNP: rs752829138
rs752829138
1 1.000 0.120 1 171638607 frameshift variant TC/- delins 4.0E-06 0.010 1.000 1 2011 2011