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: rs119478058
rs119478058
AMN
2 0.925 0.240 14 102923789 missense variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs386834168
rs386834168
AMN
2 0.925 0.240 14 102922700 frameshift variant G/- delins 0.700 0