Disease: Acid-Labile Subunit Deficiency ×
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: rs551618643
rs551618643 		1.000 16 1791591 missense variant T/C snv 5.9E-05 2.1E-05
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.800 1.000 12 2004 2016
dbSNP: rs121909247
rs121909247 		1.000 16 1790800 missense variant A/G snv 5.6E-06 7.0E-06
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.800 1.000 8 2004 2013
dbSNP: rs766004600
rs766004600 		1.000 16 1792200 missense variant G/A snv 3.4E-05 2.1E-05
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.700 1.000 8 2004 2013
dbSNP: rs774634302
rs774634302 		1.000 16 1791688 missense variant G/A snv 1.6E-05; 5.3E-06 2.8E-05
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.700 1.000 8 2004 2013
dbSNP: rs776840046
rs776840046 		1.000 16 1791100 missense variant C/T snv 2.1E-05
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.700 1.000 8 2004 2013
dbSNP: rs587776686
rs587776686 		1.000 16 1792315 frameshift variant C/-;CC delins 7.0E-06
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.700 0
dbSNP: rs606231171
rs606231171 		1.000 16 1791826 inframe insertion -/GCAGGCTGC delins 6.8E-06; 1.4E-05; 5.5E-05 7.0E-05
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		0.700 0