ADCY6, adenylate cyclase 6, 112

N. diseases: 28; N. variants: 3
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: rs786204798
rs786204798 		1.000 12 48768972 missense variant G/A snv 4.0E-06
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.800 0
dbSNP: rs879253864
rs879253864 		1.000 12 48771786 missense variant T/C snv 7.0E-06
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.700 1.000 1 2015 2015
dbSNP: rs3730070
rs3730070 		0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3730070
rs3730070 		0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2016 2016