SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
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: rs80338760
rs80338760 		1.000 0.040 17 77320193 5 prime UTR variant G/C snv
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		Nervous System Diseases 0.700 0
dbSNP: rs1342513989
rs1342513989 		17 77488312 missense variant A/G snv 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs80338761
rs80338761 		0.882 0.080 17 77402298 missense variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs80338761
rs80338761 		0.882 0.080 17 77402298 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.010 1.000 1 2008 2008
dbSNP: rs80338761
rs80338761 		0.882 0.080 17 77402298 missense variant C/T snv
CUI: C0014571
Disease: Epiphyses, Slipped
Epiphyses, Slipped 		Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80338762
rs80338762 		1.000 0.040 17 77402314 missense variant C/T snv
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		Nervous System Diseases 0.820 1.000 5 2005 2009
dbSNP: rs753318328
rs753318328 		1.000 0.040 17 77402281 missense variant C/T snv 8.7E-05 1.3E-04
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs758280589
rs758280589 		1.000 0.040 17 77402301 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs891414719
rs891414719 		1.000 0.040 17 77402265 missense variant C/T snv
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs367539
rs367539 		1.000 0.080 17 77354790 intron variant C/T snv 0.24
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs80338761
rs80338761 		0.882 0.080 17 77402298 missense variant C/T snv
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC 		Nervous System Diseases 0.850 1.000 6 2005 2013
dbSNP: rs4789452
rs4789452 		17 77376768 non coding transcript exon variant G/A;C snv 0.40
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1075457
rs1075457 		1.000 0.040 17 77404655 intron variant C/T snv 0.39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11650011
rs11650011 		1.000 0.040 17 77416252 intron variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11658267
rs11658267 		1.000 0.040 17 77415802 intron variant A/G snv 0.38
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2411110
rs2411110 		1.000 0.040 17 77404061 intron variant T/G snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs312907
rs312907 		1.000 0.040 17 77435896 intron variant T/C snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3744069
rs3744069 		1.000 0.040 17 77429374 intron variant A/G snv 5.4E-02 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs566569
rs566569 		1.000 0.040 17 77412805 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs57927100
rs57927100 		17 77321218 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs73373322
rs73373322 		17 77385957 intron variant C/T snv 3.1E-02
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2017 2017
dbSNP: rs73373322
rs73373322 		17 77385957 intron variant C/T snv 3.1E-02
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 1 2017 2017
dbSNP: rs8079522
rs8079522 		1.000 0.040 17 77424154 intron variant C/T snv 4.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs892961
rs892961 		1.000 0.040 17 77404018 intron variant T/A snv 0.42
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9916143
rs9916143 		1.000 0.040 17 77413200 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017