SLC6A9, solute carrier family 6 member 9, 6536

N. diseases: 71; N. variants: 11
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ×
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: rs1057519313
rs1057519313 		1.000 1 44001590 missense variant T/C snv
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 1.000 1 2016 2016
dbSNP: rs1057519314
rs1057519314 		1.000 1 44000805 stop gained G/A snv
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 1.000 1 2016 2016
dbSNP: rs1057519315
rs1057519315 		1.000 1 44002863 frameshift variant TTGAC/- delins
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 1.000 1 2016 2016
dbSNP: rs201437896
rs201437896 		1.000 1 44002538 stop gained G/A snv 4.0E-06
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 0