HIVEP2, HIVEP zinc finger 2, 3097

N. diseases: 42; N. variants: 18
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: rs1554274371
rs1554274371 		6 142753484 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2012 2016
dbSNP: rs765875
rs765875 		6 142864546 intron variant C/T snv 0.42
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs12154082
rs12154082 		6 142938545 intron variant G/A snv 9.7E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs198663
rs198663 		6 142830949 intron variant T/C snv 0.55
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs198665
rs198665 		6 142833749 intron variant C/A snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs3383
rs3383 		1.000 0.080 6 142751904 3 prime UTR variant T/C snv 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4896604
rs4896604 		1.000 0.040 6 142906275 intron variant G/A snv 0.58
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs62430713
rs62430713 		6 142859589 intron variant T/C snv 0.14
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs765876
rs765876 		6 142864754 intron variant A/G snv 0.43
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs7763660
rs7763660 		6 142819516 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9390032
rs9390032 		6 142904708 intron variant T/C snv 6.8E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1562505675
rs1562505675 		1.000 6 142771246 frameshift variant -/TGACTGTCCATGTGCATGATCTGTGGCTGGGC delins
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs761993070
rs761993070 		1.000 6 142759813 stop gained C/A;G;T snv 2.0E-05
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs869312841
rs869312841 		1.000 6 142771912 stop gained G/A snv
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs869312843
rs869312843 		1.000 6 142771882 stop gained C/A snv
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs869312844
rs869312844 		1.000 6 142761469 frameshift variant -/C delins
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs878853251
rs878853251 		1.000 6 142760551 frameshift variant C/- del
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs878853269
rs878853269 		1.000 6 142771183 stop gained G/A snv
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0