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: rs796053124
rs796053124
4 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs17183814
rs17183814
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.020 1.000 2 2009 2019
dbSNP: rs2304016
rs2304016
2 0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs370114048
rs370114048
3 0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs387906683
rs387906683
3 0.882 0.040 2 165297053 stop gained C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs796053134
rs796053134
5 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs797044927
rs797044927
3 0.925 0.080 2 165388746 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs982953473
rs982953473
1 1.000 0.040 2 165354456 missense variant G/A snv 2.1E-05 0.010 1.000 1 2009 2009