INKA2, inka box actin regulator 2, 55924

N. diseases: 7; N. variants: 7
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: rs12038204
rs12038204
1 111715630 3 prime UTR variant A/G snv 0.36
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs1546924
rs1546924
1 111730863 intron variant T/C snv 0.51
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs2076586
rs2076586
1 111730404 intron variant C/T snv 0.19
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs488200
rs488200
0.925 0.120 1 111720204 intron variant A/T snv 0.41
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6658723
rs6658723
1 111731540 intron variant T/C snv 0.56
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs197388
rs197388
0.925 0.040 1 111754860 non coding transcript exon variant A/T snv 0.27
CUI: C0017601
Disease: Glaucoma
Glaucoma
Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs197388
rs197388
0.925 0.040 1 111754860 non coding transcript exon variant A/T snv 0.27
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs488200
rs488200
0.925 0.120 1 111720204 intron variant A/T snv 0.41
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6573
rs6573
1.000 0.080 1 111712767 3 prime UTR variant C/A snv 0.12
Squamous cell carcinoma of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012