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: rs869320706
rs869320706
MET
1 7 116771971 splice donor variant GAGCTACTTTTCCAGAAGGTATATTTC/- delins 0.700 0
dbSNP: rs869320707
rs869320707
MET
1 7 116771990 splice donor variant G/T snv 0.700 0