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: rs746082633
rs746082633
5 0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs751047267
rs751047267
2 0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs777169135
rs777169135
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2001 2001