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: rs80358284
rs80358284
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs80358295
rs80358295
2 0.925 0.080 11 86951471 frameshift variant GTCT/- delins 8.0E-06 2.1E-05 0.700 0