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: rs147334255
rs147334255 		1.000 22 27750995 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1995 2014
dbSNP: rs147334255
rs147334255 		1.000 22 27750995 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 14 1995 2014
dbSNP: rs147334255
rs147334255 		1.000 22 27750995 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 1995 2014
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 2 2017 2019
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2283847
rs2283847 		22 27785411 intron variant C/A;G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs45589338
rs45589338 		1.000 0.080 22 27799398 missense variant C/A;G snv 2.9E-02; 7.3E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1568986066
rs1568986066 		1.000 0.040 22 27799759 frameshift variant C/- delins
CUI: C0008487
Disease: Chordoma
Chordoma 		Neoplasms 0.700 0
dbSNP: rs1568986076
rs1568986076 		1.000 0.040 22 27799768 frameshift variant TAATG/- del
CUI: C0008487
Disease: Chordoma
Chordoma 		Neoplasms 0.700 0