Source: ALL
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: rs886039356
rs886039356
EXT1
1 1.000 0.120 8 117819743 frameshift variant A/- del 0.700 1.000 1 1995 1995