rs34002892, GNPTAB

N. diseases: 8
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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 9 2005 2016
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
137 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 6 2006 2016
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
101 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 6 2006 2016
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
Premature adrenarche
CUI: C0342546
Disease: Premature adrenarche
11 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014