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: rs1553253989
rs1553253989 		1.000 0.160 1 108157481 missense variant C/T snv
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 2 2017 2018
dbSNP: rs1553253990
rs1553253990 		1.000 0.160 1 108157482 missense variant G/A snv
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs10494090
rs10494090 		1.000 0.040 1 108150714 intron variant A/C;G;T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs10494090
rs10494090 		1.000 0.040 1 108150714 intron variant A/C;G;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs547364
rs547364 		1 108199501 3 prime UTR variant C/G snv 0.50
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs663045
rs663045 		1 108200437 5 prime UTR variant G/C snv 0.55
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs663045
rs663045 		1 108200437 5 prime UTR variant G/C snv 0.55
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs663045
rs663045 		1 108200437 5 prime UTR variant G/C snv 0.55
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs663045
rs663045 		1 108200437 5 prime UTR variant G/C snv 0.55
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs663045
rs663045 		1 108200437 5 prime UTR variant G/C snv 0.55
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs1553253989
rs1553253989 		1.000 0.160 1 108157481 missense variant C/T snv
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1553253990
rs1553253990 		1.000 0.160 1 108157482 missense variant G/A snv
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017