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: rs1293657674
rs1293657674
THPO ; CHRD
3 0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05 0.010 < 0.001 1 2000 2000