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: rs7961894
rs7961894
2 12 121927677 intron variant C/T snv 7.3E-02 0.800 1.000 6 2009 2019
dbSNP: rs11043280
rs11043280
1 12 121988737 intron variant T/C snv 0.32 0.700 1.000 1 2016 2016