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: rs199538589
rs199538589
2 0.925 0.040 2 128268254 missense variant G/A snv 1.9E-03 9.3E-04 0.700 1.000 2 2011 2014
dbSNP: rs761325768
rs761325768
1 1.000 2 128268430 missense variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 2 2011 2014
dbSNP: rs200268730
rs200268730
1 1.000 2 128268746 missense variant G/A snv 1.8E-03 2.0E-03 0.700 0
dbSNP: rs201307896
rs201307896
1 1.000 2 128268481 missense variant C/T snv 7.1E-04 8.0E-04 0.700 0
dbSNP: rs780352591
rs780352591
1 1.000 2 128268482 missense variant G/A;C snv 9.3E-05; 4.1E-06 0.700 0