N4BP2L2, NEDD4 binding protein 2 like 2, 10443

N. diseases: 13; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2239748
rs2239748 		13 32527680 intron variant C/T snv 0.27
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs703212
rs703212 		13 32466293 intron variant G/A snv 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs743760
rs743760 		13 32496990 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9591012
rs9591012 		1.000 0.040 13 32484196 intron variant G/A snv 0.27
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1158061584
rs1158061584 		13 32443086 frameshift variant T/-;TT delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0