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: rs281865031
rs281865031
GNPTAB
2 0.925 0.160 12 101764201 splice donor variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 4 2005 2019