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: rs387907209
rs387907209
2 0.925 0.200 12 21842326 missense variant C/G;T snv 4.0E-06 0.700 1.000 4 2012 2017
dbSNP: rs387907228
rs387907228
2 0.925 0.200 12 21842441 missense variant G/A snv 0.700 1.000 3 2012 2015
dbSNP: rs72559751
rs72559751
1 1.000 0.040 12 21805287 missense variant C/T snv 4.0E-05 5.6E-05 0.700 1.000 1 2004 2004
dbSNP: rs121909304
rs121909304
1 1.000 0.040 12 21801157 missense variant C/T snv 0.700 0
dbSNP: rs1555179320
rs1555179320
4 0.925 0.040 12 21817283 missense variant C/T snv 0.700 0
dbSNP: rs387907208
rs387907208
5 0.851 0.200 12 21842327 missense variant G/A;C snv 0.700 0
dbSNP: rs761784169
rs761784169
3 0.882 0.200 12 21805251 frameshift variant -/A ins 4.0E-06; 4.0E-06; 5.4E-04 0.700 0