rs2071421, ARSA

N. diseases: 7
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.
Metachromatic Leukodystrophy, Infant
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
10 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.020 1.000 2 2002 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2003 2003
Arylsulfatase A Deficiency
CUI: C2713319
Disease: Arylsulfatase A Deficiency
1 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 1999 1999
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2003 2003
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2003 2003
Leukodystrophy, Metachromatic
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
158 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2006 2006
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 1998 1998