NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs369698072
rs369698072 		0.925 0.040 2 15238670 missense variant C/A;T snv 2.8E-05
CUI: C3541319
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 		0.820 1.000 2 2010 2017
dbSNP: rs368196005
rs368196005 		1.000 2 15417582 missense variant A/C snv 8.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.810 1.000 2 2015 2019