SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
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: rs587784382
rs587784382 		1.000 0.120 X 74524699 stop gained C/T snv
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784383
rs587784383 		1.000 0.120 X 74524762 missense variant G/A snv
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		0.700 0
dbSNP: rs587784383
rs587784383 		1.000 0.120 X 74524762 missense variant G/A snv
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784386
rs587784386 		1.000 0.120 X 74421914 stop gained C/T snv
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs727504155
rs727504155 		1.000 0.120 X 74524373 missense variant G/A snv
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs766773277
rs766773277 		1.000 0.120 X 74524723 stop gained C/A;T snv 1.6E-05
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045962
rs797045962 		1.000 0.120 X 74529428 frameshift variant -/C delins
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045963
rs797045963 		1.000 0.120 X 74531405 frameshift variant GTAATCCT/- delins
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045965
rs797045965 		1.000 0.120 X 74421891 frameshift variant C/- delins
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045966
rs797045966 		1.000 0.120 X 74422011 frameshift variant A/- del
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0