Source: CURATED ×
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: rs1057519487
rs1057519487
PITX2
1 1.000 0.080 4 110618365 frameshift variant GAGCCCGGGACGCCTGTCACTG/- delins 0.700 0