rs121908131, APTX

N. diseases: 4
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.
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
19 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.800 1.000 10 2001 2014
Apraxia, oculomotor, Cogan type
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
2 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011