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: rs147212971
rs147212971
1 6 165764963 intron variant C/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs7744143
rs7744143
2 6 165766475 intron variant A/G snv 9.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs903432
rs903432
2 6 165761983 intron variant A/C;G snv 0.700 1.000 1 2017 2017