rs771237928, NOTCH2

N. diseases: 14
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.
Hajdu-Cheney Syndrome
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
13 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 1.000 4 1996 2016
Monoclonal B-Cell Lymphocytosis
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
7 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 1.000 2 2012 2012
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Mesomelia
CUI: C0549306
Disease: Mesomelia
4 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Periocular capillary hemangioma
CUI: C4703714
Disease: Periocular capillary hemangioma
1 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0