Source: ALL
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: rs146927457
rs146927457
ATP12A
2 0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs751404811
rs751404811
ALPL
2 0.925 0.080 1 21575901 frameshift variant C/-;CC delins 2.4E-05 0.700 1.000 2 1999 2017
dbSNP: rs199669988
rs199669988
ALPL
3 0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05 0.700 1.000 7 1998 2018
dbSNP: rs567349821
rs567349821
ALPL
3 0.925 0.120 1 21575812 missense variant C/G;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2018 2018