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: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.727 11 2004 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.030 1.000 3 2013 2018
dbSNP: rs12495941
rs12495941
5 0.851 0.280 3 186850391 intron variant G/T snv 0.35 0.010 < 0.001 1 2017 2017
dbSNP: rs17300539
rs17300539
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs17366743
rs17366743
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs2241767
rs2241767
10 0.763 0.440 3 186853407 intron variant A/G snv 0.10 0.010 1.000 1 2020 2020
dbSNP: rs3774261
rs3774261
10 0.776 0.320 3 186853770 splice region variant A/G snv 0.55 0.010 1.000 1 2020 2020