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: rs869025322
rs869025322 		0.925 0.040 4 88521653 missense variant A/G snv
CUI: C4225201
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 		0.800 1.000 1 2015 2015
dbSNP: rs869025323
rs869025323 		1.000 4 88523797 upstream gene variant C/T snv
CUI: C4225201
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 		0.700 0
dbSNP: rs869025322
rs869025322 		0.925 0.040 4 88521653 missense variant A/G snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
dbSNP: rs869025322
rs869025322 		0.925 0.040 4 88521653 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015