rs672601372, RARS1

N. diseases: 3
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.
LEUKODYSTROPHY, HYPOMYELINATING, 9
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
8 0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 0.800 1.000 2 2014 2017
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 0.700 1.000 2 2014 2017
Pelizaeus-Merzbacher Disease
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
30 0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 0.010 1.000 1 2017 2017