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: 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: 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: 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: 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: 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