SIM1, SIM bHLH transcription factor 1, 6492

N. diseases: 84; 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: rs1857859
rs1857859 		6 100446711 intron variant G/A snv 0.26
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs241812
rs241812 		6 100443115 intron variant A/G;T snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs241812
rs241812 		6 100443115 intron variant A/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs3778033
rs3778033 		6 100427640 intron variant T/C snv 0.19
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4840132
rs4840132 		1.000 0.040 6 100466726 upstream gene variant C/T snv 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9386144
rs9386144 		6 100425381 intron variant T/C snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3734354
rs3734354 		1.000 0.080 6 100420903 missense variant G/A;T snv 1.6E-04; 0.18
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2010 2017
dbSNP: rs1004357606
rs1004357606 		1.000 0.080 6 100390921 missense variant T/C snv 4.0E-06 6.3E-05
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs201038781
rs201038781 		1.000 0.080 6 100453836 missense variant C/G;T snv 1.2E-05
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3213541
rs3213541 		1.000 0.080 6 100448367 intron variant A/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3734354
rs3734354 		1.000 0.080 6 100420903 missense variant G/A;T snv 1.6E-04; 0.18
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs756633599
rs756633599 		0.925 0.080 6 100447299 missense variant G/A snv 1.6E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs756633599
rs756633599 		0.925 0.080 6 100447299 missense variant G/A snv 1.6E-05
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs757139012
rs757139012 		0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs757139012
rs757139012 		0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs757139012
rs757139012 		0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013