Source: ALL
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: rs12416331
rs12416331
NT5C2
2 1.000 0.040 10 103169157 intron variant T/A snv 8.4E-02 0.700 1.000 1 2018 2018