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: rs1264025914
rs1264025914
2 1.000 0.040 17 29250301 splice donor variant G/A;T snv 7.0E-06 0.700 1.000 6 2004 2017