Source: BEFREE ×
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: rs2231142
rs2231142
54 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 1.000 2 2005 2019
dbSNP: rs199976573
rs199976573
4 0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs2622621
rs2622621
3 0.851 0.240 4 88109768 intron variant C/A;G snv 0.010 1.000 1 2019 2019