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: rs118204118
rs118204118
HMBS
1 1.000 0.160 11 119085034 start lost A/G snv 0.700 0
dbSNP: rs1565750784
rs1565750784
HMBS
1 1.000 0.160 11 119085067 splice donor variant G/A;T snv 0.700 0