rs121907972, HEXA

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
129 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.800 1.000 22 1988 2016
Abnormal thalamic MRI signal intensity
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
6 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012