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: rs12036147
rs12036147
2 1.000 0.040 1 239835413 intron variant A/G;T snv 0.700 1.000 1 2019 2019