rs796052121, 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.
INFANTILE LIVER FAILURE SYNDROME 2
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
12 0.925 2 15394320 missense variant A/G snv 0.800 0
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
4 0.925 2 15394320 missense variant A/G snv 0.700 1.000 1 2015 2015