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: rs121908567
rs121908567
1 1.000 0.080 17 65536345 stop gained C/A;T snv 0.700 0
dbSNP: rs1567755946
rs1567755946
2 0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins 0.700 0
dbSNP: rs267606674
rs267606674
2 0.925 0.160 17 65536467 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs2240308
rs2240308
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.030 1.000 3 2006 2016
dbSNP: rs1133683
rs1133683
3 1.000 0.080 17 65537650 synonymous variant G/A snv 0.60; 5.4E-06 0.53 0.010 1.000 1 2016 2016
dbSNP: rs121908568
rs121908568
9 0.807 0.160 17 65536495 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs3923087
rs3923087
5 0.827 0.160 17 65553143 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs4791171
rs4791171
11 0.763 0.080 17 65545379 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs730882193
rs730882193
6 0.807 0.200 17 65536472 stop gained C/G;T snv 0.010 < 0.001 1 2015 2015