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: rs1554603550
rs1554603550 		8 60850514 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs1554603589
rs1554603589 		8 60850623 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1999 2016
dbSNP: rs1554604059
rs1554604059 		8 60852866 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs1554605030
rs1554605030 		8 60856559 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs10094382
rs10094382 		8 60860726 intron variant C/T snv 0.46
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs10957156
rs10957156 		8 60716842 intron variant G/A snv 0.77
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs13277976
rs13277976 		8 60766479 intron variant A/T snv 0.77
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs13280978
rs13280978 		8 60791496 intron variant C/T snv 0.52
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs35914442
rs35914442 		8 60724328 intron variant A/G snv 0.17
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs35914442
rs35914442 		8 60724328 intron variant A/G snv 0.17
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4237036
rs4237036 		8 60788498 intron variant C/T snv 0.52
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs4449834
rs4449834 		8 60843309 intron variant G/T snv 0.71
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs4449834
rs4449834 		8 60843309 intron variant G/T snv 0.71
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4738817
rs4738817 		8 60708054 intron variant G/A snv 0.36
CUI: C0001925
Disease: Albuminuria
Albuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6994642
rs6994642 		8 60811218 intron variant C/T snv 0.18
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs7842389
rs7842389 		8 60772635 intron variant C/T snv 0.77
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7845701
rs7845701 		8 60711732 intron variant T/A;C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs797044919
rs797044919 		8 60845364 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs900504
rs900504 		8 60739148 intron variant G/A snv 0.45
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1554603293
rs1554603293 		0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0