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: rs387906358
rs387906358
4 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 0
dbSNP: rs80338844
rs80338844
10 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0