HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Developmental regression ×
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: rs387906309
rs387906309 		0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 3 2012 2014
dbSNP: rs1057519463
rs1057519463 		0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs1057519464
rs1057519464 		0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs1057519467
rs1057519467 		0.925 0.160 15 72345540 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs1057519468
rs1057519468 		0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs121907966
rs121907966 		0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 1992 1992
dbSNP: rs121907972
rs121907972 		0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs762374961
rs762374961 		0.925 0.160 15 72346235 stop gained C/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs773446161
rs773446161 		0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 1997 1997
dbSNP: rs786204585
rs786204585 		0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs1057519465
rs1057519465 		0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs1057519466
rs1057519466 		0.925 0.160 15 72346307 frameshift variant G/- del
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs121907978
rs121907978 		0.925 0.160 15 72346296 missense variant C/G;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs370266293
rs370266293 		0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs748190164
rs748190164 		0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0