HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Abnormal thalamic MRI signal intensity ×
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: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.700 1.000 3 2012 2014
dbSNP: rs121907972
rs121907972 		0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.700 1.000 1 2012 2012
dbSNP: rs773446161
rs773446161 		0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.700 1.000 1 1997 1997
dbSNP: rs1057519465
rs1057519465 		0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.700 0
dbSNP: rs121907978
rs121907978 		0.925 0.160 15 72346296 missense variant C/G;T snv
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.700 0