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: rs17036321
rs17036321
2 3 12343100 intron variant T/C;G snv 2.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs1797912
rs1797912
3 1.000 0.040 3 12428740 intron variant A/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs4135361
rs4135361
2 3 12429164 intron variant G/A snv 1.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs7646510
rs7646510
2 3 12321859 intron variant A/G snv 1.9E-02 0.700 1.000 1 2012 2012