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: rs730881131
rs730881131
TPM1
2 1.000 0.040 15 63057036 missense variant G/C snv 0.010 1.000 1 2018 2018