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: rs1555959737
rs1555959737
PCNT
1 1.000 0.240 21 46363457 splice acceptor variant ATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAA/- delins 0.700 0