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: rs202088921
rs202088921
1 1.000 0.160 5 132370108 missense variant C/G;T snv 4.5E-04 0.800 1.000 24 1999 2017
dbSNP: rs72552725
rs72552725
3 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.800 1.000 24 1999 2017
dbSNP: rs72552726
rs72552726
1 1.000 0.160 5 132370220 missense variant G/T snv 2.7E-04 3.5E-05 0.800 1.000 23 1999 2017
dbSNP: rs201082652
rs201082652
1 1.000 0.160 5 132370336 missense variant G/A;T snv 3.8E-04 0.800 1.000 19 1999 2017
dbSNP: rs267607052
rs267607052
1 1.000 0.160 5 132370015 missense variant G/T snv 9.6E-05 0.800 1.000 18 1999 2017
dbSNP: rs11568520
rs11568520
1 1.000 0.160 5 132370023 missense variant C/G snv 1.2E-04 4.9E-05 0.800 1.000 5 2006 2014
dbSNP: rs139203363
rs139203363
1 1.000 0.160 5 132370006 missense variant G/A snv 7.1E-04 6.5E-04 0.700 1.000 18 1999 2017
dbSNP: rs72552723
rs72552723
1 1.000 0.160 5 132370028 missense variant G/A;C snv 4.0E-06 0.700 1.000 18 1999 2017
dbSNP: rs72552724
rs72552724
1 1.000 0.160 5 132370055 missense variant G/T snv 0.700 1.000 18 1999 2017
dbSNP: rs757711838
rs757711838
1 1.000 0.160 5 132370196 missense variant G/C snv 9.9E-06 1.4E-05 0.700 1.000 18 1999 2017
dbSNP: rs377767444
rs377767444
1 1.000 0.160 5 132370034 inframe deletion TTC/- delins 0.700 1.000 7 1990 2017
dbSNP: rs377767449
rs377767449
1 1.000 0.160 5 132370222 frameshift variant -/GGCTCGCCACC delins 0.700 1.000 6 2002 2017
dbSNP: rs1554085861
rs1554085861
1 1.000 0.160 5 132369882 start lost GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- del 0.700 1.000 3 1999 2017
dbSNP: rs121908892
rs121908892
1 1.000 0.160 5 132369975 start lost G/A;T snv 0.700 1.000 2 2005 2006
dbSNP: rs72552722
rs72552722
1 1.000 0.160 5 132369984 stop gained C/G snv 8.0E-06 0.700 1.000 2 2002 2006
dbSNP: rs727504159
rs727504159
1 1.000 0.160 5 132370310 missense variant G/A snv 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs1022453298
rs1022453298
1 1.000 0.160 5 132370023 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516797
rs1057516797
1 1.000 0.160 5 132370127 frameshift variant -/GACGCCG delins 0.700 0
dbSNP: rs1057517069
rs1057517069
1 1.000 0.160 5 132370366 splice donor variant G/A snv 0.700 0
dbSNP: rs1253026669
rs1253026669
1 1.000 0.160 5 132370224 stop gained C/G;T snv 0.700 0
dbSNP: rs1321705165
rs1321705165
1 1.000 0.160 5 132370363 stop gained G/A;T snv 1.7E-05 7.0E-06 0.700 0
dbSNP: rs1554085885
rs1554085885
1 1.000 0.160 5 132369974 start lost T/G snv 0.700 0
dbSNP: rs1554085892
rs1554085892
1 1.000 0.160 5 132369985 frameshift variant G/- del 0.700 0
dbSNP: rs1554085942
rs1554085942
1 1.000 0.160 5 132370157 stop gained G/A snv 0.700 0
dbSNP: rs1554085973
rs1554085973
1 1.000 0.160 5 132370222 frameshift variant -/CCGGCTCGCCACCA delins 0.700 0