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: rs374993554
rs374993554 		0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.800 1.000 2 2015 2015
dbSNP: rs727503778
rs727503778 		0.925 0.080 7 100114074 missense variant G/A snv
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.800 0
dbSNP: rs117460458
rs117460458 		7 100108776 3 prime UTR variant C/G snv 1.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1880949
rs1880949 		7 100124643 intron variant G/A;T snv 4.0E-06; 0.26 0.24
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs374993554
rs374993554 		0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs374993554
rs374993554 		0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs727503778
rs727503778 		0.925 0.080 7 100114074 missense variant G/A snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs760907496
rs760907496 		1.000 0.080 7 100106745 missense variant T/C snv 4.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0