ASIC2, acid sensing ion channel subunit 2, 40

N. diseases: 33; N. variants: 4
Source: BEFREE ×
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: rs1194556417
rs1194556417
1.000 0.080 17 33292023 synonymous variant C/T snv 7.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17836917
rs17836917
1.000 0.080 17 33720263 intron variant G/A snv 2.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs28936
rs28936
1.000 0.080 17 33013372 3 prime UTR variant T/C snv 0.47
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs378448
rs378448
1.000 0.040 17 33874046 intron variant C/T snv 0.25
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.010 1.000 1 2017 2017