NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: INFANTILE LIVER FAILURE SYNDROME 2 ×
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: 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
dbSNP: rs796052121
rs796052121 		0.925 2 15394320 missense variant A/G snv
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.800 0
dbSNP: rs140841721
rs140841721 		1.000 2 15402288 missense variant A/C;G snv 1.2E-05; 1.1E-04
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs368085185
rs368085185 		1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs748880753
rs748880753 		1.000 2 15534609 missense variant T/C;G snv 8.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 1.000 1 2017 2017
dbSNP: rs770446752
rs770446752 		1.000 2 15468510 stop gained C/A;T snv 1.6E-05
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 1.000 1 2017 2017
dbSNP: rs1085307944
rs1085307944 		1.000 2 15424368 missense variant C/A snv 8.0E-06 1.4E-05
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 0
dbSNP: rs759315662
rs759315662 		1.000 2 15534602 frameshift variant -/A delins 3.5E-04 3.8E-04
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 0
dbSNP: rs759960319
rs759960319 		1.000 2 15474165 stop gained G/A;C snv 1.6E-05; 4.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 0
dbSNP: rs776597537
rs776597537 		1.000 2 15178988 splice region variant C/G;T snv 4.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 0
dbSNP: rs796065037
rs796065037 		1.000 2 15536505 inframe deletion TCA/- delins
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 0
dbSNP: rs796065038
rs796065038 		1.000 2 15536460 inframe deletion GAG/- delins 7.0E-06
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 0