rs397518483, RARB

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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.851 0.120 3 25596428 missense variant C/A;T snv 0.700 1.000 5 2007 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.120 3 25596428 missense variant C/A;T snv 0.700 1.000 5 2007 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.120 3 25596428 missense variant C/A;T snv 0.700 1.000 5 2007 2016
MICROPHTHALMIA, SYNDROMIC 12
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
6 0.851 0.120 3 25596428 missense variant C/A;T snv 0.700 1.000 1 2013 2013
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.851 0.120 3 25596428 missense variant C/A;T snv 0.020 1.000 2 2013 2016
Diaphragmatic Hernia
CUI: C0019284
Disease: Diaphragmatic Hernia
3 0.851 0.120 3 25596428 missense variant C/A;T snv 0.020 1.000 2 2013 2016
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.851 0.120 3 25596428 missense variant C/A;T snv 0.020 1.000 2 2013 2016
Constipation
CUI: C0009806
Disease: Constipation
57 0.851 0.120 3 25596428 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Hypoganglionosis
CUI: C0546275
Disease: Hypoganglionosis
1 0.851 0.120 3 25596428 missense variant C/A;T snv 0.010 1.000 1 2019 2019