rs121907966, HEXA

N. diseases: 9
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 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 29 1988 2016
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
15 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
Hyperacusis
CUI: C0034880
Disease: Hyperacusis
9 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
GM2-GANGLIOSIDOSIS, ADULT-ONSET
CUI: C4310893
Disease: GM2-GANGLIOSIDOSIS, ADULT-ONSET
2 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0