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: rs12704290
rs12704290
3 1.000 0.040 7 86798310 intron variant G/A snv 8.9E-02 0.720 0.900 10 2014 2019
dbSNP: rs2237562
rs2237562
1 1.000 0.040 7 86792916 intron variant T/C snv 0.40 0.020 1.000 2 2008 2017
dbSNP: rs2228595
rs2228595
1 1.000 0.040 7 86786671 synonymous variant C/T snv 6.8E-02 4.9E-02 0.010 1.000 1 2008 2008