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: rs1175550
rs1175550
5 1 3774964 intron variant A/G snv 0.31 0.700 1.000 2 2017 2019
dbSNP: rs566629828
rs566629828
2 1 3775434 frameshift variant AGCCTAGGGGCTGTGTC/- delins 9.2E-03 0.700 1.000 2 2016 2017