rs368085185, NBAS

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.
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015
INFANTILE LIVER FAILURE SYNDROME 2
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
12 1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015