ATG2B, autophagy related 2B, 55102

N. diseases: 19; N. variants: 1
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: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
CUI: C0747548
Disease: Pharyngeal Carcinoma
Pharyngeal Carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma
Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
CUI: C0153405
Disease: Malignant neoplasm of pharynx
Malignant neoplasm of pharynx
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3759601
rs3759601
0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014