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: rs121964972
rs121964972
CBS
5 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.010 1.000 1 2003 2003
dbSNP: rs1417529866
rs1417529866
ADK
2 1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs72558181
rs72558181
2 1.000 0.080 10 80275177 missense variant C/T snv 0.010 1.000 1 2013 2013