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: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.060 0.833 6 2009 2017
dbSNP: rs1805407
rs1805407
2 1 226402132 missense variant T/A;C snv 4.1E-06; 0.19 0.010 1.000 1 2019 2019