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: rs6539344
rs6539344
1 12 79265260 intron variant G/T snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs7963801
rs7963801
3 12 79291446 intron variant T/C snv 0.70 0.700 1.000 1 2018 2018