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: rs121918329
rs121918329
HIBCH
2 1.000 0.080 2 190290425 missense variant T/C snv 6.4E-05 1.4E-05 0.800 1.000 1 2007 2007
dbSNP: rs143746450
rs143746450
HIBCH
1 1.000 0.080 2 190246153 splice donor variant C/A;T snv 4.0E-06; 1.6E-05 0.700 1.000 2 2007 2015
dbSNP: rs1553499757
rs1553499757
HIBCH
1 1.000 0.080 2 190244948 missense variant A/T snv 0.700 0
dbSNP: rs1553506164
rs1553506164
HIBCH
1 1.000 0.080 2 190296820 missense variant T/G snv 0.700 0