SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
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: rs1555706391
rs1555706391 		1.000 18 44950745 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2008 2017
dbSNP: rs267607042
rs267607042 		0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 1.000 4 2010 2017
dbSNP: rs1057519594
rs1057519594 		1.000 18 44951356 frameshift variant -/T ins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 1.000 1 2014 2014
dbSNP: rs10853525
rs10853525 		18 44856687 intron variant C/T snv 0.35
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs11874040
rs11874040 		18 45016031 intron variant A/G snv 0.29
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs11874040
rs11874040 		18 45016031 intron variant A/G snv 0.29
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs16978162
rs16978162 		18 44776250 intron variant G/A;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs16978240
rs16978240 		18 44969292 intron variant C/T snv 9.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs7233512
rs7233512 		18 45015111 intron variant G/A snv 0.37
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs9807656
rs9807656 		18 44766991 intron variant T/C snv 0.12
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs991014
rs991014 		18 44859921 intron variant C/T snv 0.35
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		0.700 1.000 1 2010 2010
dbSNP: rs991014
rs991014 		18 44859921 intron variant C/T snv 0.35
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		0.700 0
dbSNP: rs606231269
rs606231269 		1.000 18 44951803 frameshift variant A/- delins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231270
rs606231270 		1.000 18 44952372 stop gained C/G snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231271
rs606231271 		1.000 18 44701771 frameshift variant C/- delins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231272
rs606231272 		0.925 0.240 18 44951213 stop gained C/T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231273
rs606231273 		0.925 0.240 18 44951216 stop gained C/T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs672601342
rs672601342 		1.000 18 44950936 stop gained G/A;T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs17782904
rs17782904 		0.925 0.120 18 44733745 intron variant G/A snv 0.18
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020