RAB5B, RAB5B, member RAS oncogene family, 5869

N. diseases: 22; N. variants: 10
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: rs705702
rs705702
1.000 0.120 12 55996852 upstream gene variant A/G snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.810 1.000 2 2012 2016
dbSNP: rs705699
rs705699
0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs705700
rs705700
0.882 0.200 12 55995509 3 prime UTR variant T/C snv 0.41
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs11171710
rs11171710
1.000 0.040 12 55974294 intron variant G/A snv 0.36
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs705699
rs705699
0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs705699
rs705699
0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs705699
rs705699
0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs705699
rs705699
0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
0.700 1.000 1 2019 2019
dbSNP: rs705700
rs705700
0.882 0.200 12 55995509 3 prime UTR variant T/C snv 0.41
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs772920
rs772920
0.925 0.120 12 55996580 3 prime UTR variant C/G;T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs772920
rs772920
0.925 0.120 12 55996580 3 prime UTR variant C/G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2018 2018
dbSNP: rs773107
rs773107
0.882 12 55975722 intron variant A/G;T snv
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
0.700 1.000 1 2019 2019
dbSNP: rs773107
rs773107
0.882 12 55975722 intron variant A/G;T snv
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.700 1.000 1 2019 2019
dbSNP: rs773107
rs773107
0.882 12 55975722 intron variant A/G;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs773107
rs773107
0.882 12 55975722 intron variant A/G;T snv
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.700 1.000 1 2019 2019
dbSNP: rs773110
rs773110
12 55981353 intron variant C/G snv 0.24
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs1045435
rs1045435
1.000 0.120 12 55972376 3 prime UTR variant G/C snv 0.15
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11171718
rs11171718
1.000 0.120 12 55995838 3 prime UTR variant G/A snv 4.0E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11550558
rs11550558
1.000 0.120 12 55992292 3 prime UTR variant A/G snv 0.16
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs705700
rs705700
0.882 0.200 12 55995509 3 prime UTR variant T/C snv 0.41
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs772920
rs772920
0.925 0.120 12 55996580 3 prime UTR variant C/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019