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 0.050 0.800 5 2009 2014
dbSNP: rs3738708
rs3738708
3 0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06 0.010 < 0.001 1 2012 2012