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: rs121908641
rs121908641
ASS1 ; LOC105376294
3 0.882 0.120 9 130499545 missense variant G/A;T snv 3.2E-04; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs201623252
rs201623252
ASS1
2 0.925 0.120 9 130464127 missense variant G/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014