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: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2013 2013
dbSNP: rs1051296
rs1051296
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs138047632
rs138047632
3 0.882 0.120 21 45525860 missense variant A/G snv 2.4E-03 2.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs569954362
rs569954362
4 0.851 0.160 21 45530871 synonymous variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs57725551
rs57725551
3 0.882 0.120 21 45525868 synonymous variant G/T snv 5.3E-03 7.0E-03 0.010 1.000 1 2001 2001
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2010 2010