Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61754966
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.720 1.000 0 2004 2014
dbSNP: rs113993992
rs113993992
SBDS
0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs113993993
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs193302875
rs193302875
PRF1
1.000 0.040 10 70598558 missense variant C/A snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs587782545
rs587782545
NBN
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs730881864
rs730881864
NBN
0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0
dbSNP: rs767215758
rs767215758
NBN
0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.700 0