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: rs2634675
rs2634675
1 12 48347072 intron variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2732481
rs2732481
1 12 48343202 missense variant T/A;G snv 4.0E-06; 0.28 0.700 1.000 1 2019 2019