rs374635469, GALC

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
111 0.925 0.120 14 87986543 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2007 2013
Infantile Globoid Cell Leukodystrophy
CUI: C0751273
Disease: Infantile Globoid Cell Leukodystrophy
2 0.925 0.120 14 87986543 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2013 2013