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: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2014 2014
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: rs780497781
rs780497781
2 0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs974173968
rs974173968
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2012 2012