SLC6A9, solute carrier family 6 member 9, 6536

N. diseases: 71; N. variants: 11
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: rs113551349
rs113551349 		0.925 0.040 1 44009451 intron variant C/T snv 0.20
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs113551349
rs113551349 		0.925 0.040 1 44009451 intron variant C/T snv 0.20
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.700 1.000 1 2019 2019
dbSNP: rs12037805
rs12037805 		1 44031577 intron variant T/C snv 0.25
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs34282584
rs34282584 		1 44022794 intron variant A/C snv 0.28
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
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
dbSNP: rs202227574
rs202227574 		1.000 0.080 1 44011717 synonymous variant C/T snv 4.0E-06 2.1E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2286245
rs2286245 		1.000 0.040 1 43997532 3 prime UTR variant C/T snv 4.9E-02; 4.1E-06 3.6E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2486001
rs2486001 		1.000 0.040 1 44010315 non coding transcript exon variant T/C snv 0.87
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs3791124
rs3791124 		1.000 0.040 1 43998533 intron variant A/G snv 0.86
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2009 2009