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: rs1057518204
rs1057518204 		0.925 21 37480659 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555984102
rs1555984102 		21 37490194 frameshift variant AT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 18 1990 2016
dbSNP: rs1555984304
rs1555984304 		1.000 21 37490340 frameshift variant C/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1990 2016
dbSNP: rs1555984304
rs1555984304 		1.000 21 37490340 frameshift variant C/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555985620
rs1555985620 		1.000 21 37493094 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555985642
rs1555985642 		1.000 21 37493100 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1990 2016
dbSNP: rs1555985642
rs1555985642 		1.000 21 37493100 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555990751
rs1555990751 		1.000 21 37505307 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555990751
rs1555990751 		1.000 21 37505307 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 18 1990 2016
dbSNP: rs1555990816
rs1555990816 		1.000 21 37505344 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs797044523
rs797044523 		0.882 21 37480756 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs724159949
rs724159949 		0.827 0.240 21 37486563 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 4 2014 2015
dbSNP: rs724159948
rs724159948 		1.000 21 37490273 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 3 2015 2017
dbSNP: rs1555984461
rs1555984461 		1.000 21 37490462 splice region variant AGTA/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2016 2016
dbSNP: rs1555985649
rs1555985649 		1.000 21 37493102 missense variant C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2015 2015
dbSNP: rs17193211
rs17193211 		21 37513203 3 prime UTR variant C/T snv 5.5E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs724159953
rs724159953 		1.000 21 37505352 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2015 2017
dbSNP: rs797044520
rs797044520 		0.925 21 37505442 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2015 2016
dbSNP: rs1057519628
rs1057519628 		1.000 21 37505531 frameshift variant C/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2012 2012
dbSNP: rs12483205
rs12483205 		21 37368522 intron variant A/G snv 0.22
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1555984064
rs1555984064 		1.000 21 37490164 splice region variant CTCTT/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2016 2016
dbSNP: rs1569371303
rs1569371303 		1.000 21 37486616 splice donor variant T/C snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs17814633
rs17814633 		21 37397354 intron variant G/T snv 9.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2835731
rs2835731 		1.000 0.040 21 37424426 intron variant C/G;T snv 0.17
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2835750
rs2835750 		0.925 0.040 21 37446358 intron variant T/C snv 0.88
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018