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: rs104894029
rs104894029
NT5C3A
2 0.925 0.080 7 33015741 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs137853583
rs137853583
GPI
5 0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2230294
rs2230294
GPI
4 0.851 0.080 19 34393927 missense variant G/A;T snv 2.0E-04 0.010 1.000 1 2017 2017