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: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.060 0.833 6 2013 2019
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.030 0.333 3 2012 2018
dbSNP: rs12695895
rs12695895
3 0.925 0.040 3 148725481 intron variant C/T snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs2638360
rs2638360
3 0.925 0.080 3 148710569 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs2933249
rs2933249
1 3 148698733 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs553350297
rs553350297
4 0.882 0.040 3 148741588 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs911154679
rs911154679
2 1.000 0.040 3 148741352 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010