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: rs142433332
rs142433332
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0