rs80356768, GBA

N. diseases: 3
Source: CURATED ×
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.
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
41 0.882 0.120 1 155235750 frameshift variant ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- delins 0.700 1.000 5 1993 2016
GAUCHER DISEASE, PERINATAL LETHAL
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
16 0.882 0.120 1 155235750 frameshift variant ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- delins 0.700 0
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
114 0.882 0.120 1 155235750 frameshift variant ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- delins 0.700 0