Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		0.700 1.000 4 1996 2016
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis 		0.700 1.000 2 2012 2012
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C4703714
Disease: Periocular capillary hemangioma
Periocular capillary hemangioma 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0