Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0030193
Disease: Pain
Pain 		0.040 1.000 4 2010 2018
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0019270
Disease: Hernia
Hernia 		0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 1.000 1 2017 2017
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0004604
Disease: Back Pain
Back Pain 		0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0391976
Disease: Pain Disorder
Pain Disorder 		0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.010 < 0.001 1 2011 2011
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2017 2017
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2020 2020
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		0.010 1.000 1 2009 2009
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C3178789
Disease: Widespread Chronic Pain
Widespread Chronic Pain 		0.010 1.000 1 2012 2012
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2012 2012
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2011 2011
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.010 1.000 1 2011 2011
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		0.010 1.000 1 2016 2016