rs869025221, RARB

N. diseases: 5
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.
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
MICROPHTHALMIA, SYNDROMIC 12
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
6 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
Progressive spasticity
CUI: C1859520
Disease: Progressive spasticity
5 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0