SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
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: rs80358222
rs80358222 		1.000 0.080 1 112917796 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs11804107
rs11804107 		1 112929525 intron variant C/A snv 1.6E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11804107
rs11804107 		1 112929525 intron variant C/A snv 1.6E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs72552271
rs72552271 		1.000 0.080 1 112913980 missense variant C/T snv 1.2E-04 3.9E-04
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs387906403
rs387906403 		1.000 0.040 1 112956192 5 prime UTR variant C/T snv
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231172
rs606231172 		1.000 0.040 1 112956380 intron variant -/CCCCACCCCGCCACGTGACCGGCGT ins
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231299
rs606231299 		1.000 1 112917469 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C4016683
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs606231300
rs606231300 		1.000 1 112917820 stop gained G/A snv
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs606231301
rs606231301 		1.000 1 112917907 frameshift variant C/- delins 4.1E-06
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs606231302
rs606231302 		0.925 1 112917468 missense variant C/T snv
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs606231302
rs606231302 		0.925 1 112917468 missense variant C/T snv
CUI: C4015186
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 		0.700 0
dbSNP: rs606231309
rs606231309 		1.000 1 112929268 frameshift variant G/-;GG delins
CUI: C4016683
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs606231310
rs606231310 		0.925 0.040 1 112917424 stop gained G/A snv 4.0E-06
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231310
rs606231310 		0.925 0.040 1 112917424 stop gained G/A snv 4.0E-06
CUI: C4016683
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs606231311
rs606231311 		1.000 1 112917656 frameshift variant AATT/- delins 8.0E-06 1.4E-05
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs606231312
rs606231312 		1.000 1 112917915 frameshift variant -/G delins
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1049434
rs1049434 		0.925 0.120 1 112913924 missense variant A/T snv 0.59 0.66
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1049434
rs1049434 		0.925 0.120 1 112913924 missense variant A/T snv 0.59 0.66
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs60844753
rs60844753 		0.925 0.160 1 112956453 non coding transcript exon variant G/A;C;T snv
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs60844753
rs60844753 		0.925 0.160 1 112956453 non coding transcript exon variant G/A;C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015