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: rs137853226
rs137853226
3 0.882 0.160 3 50256262 missense variant C/G;T snv 0.700 0
dbSNP: rs137853227
rs137853227
2 0.925 0.120 3 50256263 missense variant G/A snv 7.1E-06 0.700 0
dbSNP: rs1057519865
rs1057519865
15 0.742 0.240 3 138946321 missense variant G/C snv 0.020 0.500 2 2010 2014