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: rs1554643142
rs1554643142
PUF60
4 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0