RFX6, regulatory factor X6, 222546

N. diseases: 39; N. variants: 13
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: rs267607012
rs267607012
1.000 0.160 6 116895184 missense variant T/C snv
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2010 2014
dbSNP: rs267607013
rs267607013
1.000 0.160 6 116882404 missense variant G/A snv
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2010 2014
dbSNP: rs339331
rs339331
0.882 0.080 6 116888889 intron variant T/C snv 0.28
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.760 0.900 10 2010 2019
dbSNP: rs339331
rs339331
0.882 0.080 6 116888889 intron variant T/C snv 0.28
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.760 0.857 7 2010 2016
dbSNP: rs1445567359
rs1445567359
1.000 0.160 6 116919268 missense variant G/A snv 8.0E-06
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs1445567359
rs1445567359
1.000 0.160 6 116919268 missense variant G/A snv 8.0E-06
Congenital anomaly of gastrointestinal tract
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs144648002
rs144648002
1.000 0.160 6 116927317 stop gained C/G;T snv 1.1E-03; 4.0E-06
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1562146029
rs1562146029
1.000 0.160 6 116920441 frameshift variant TCTA/- delins
Congenital anomaly of gastrointestinal tract
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1562146029
rs1562146029
1.000 0.160 6 116920441 frameshift variant TCTA/- delins
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776514
rs587776514
1.000 0.160 6 116877954 splice donor variant T/C snv
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776515
rs587776515
1.000 0.160 6 116877784 intron variant A/G snv 4.0E-06
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776516
rs587776516
1.000 0.160 6 116895209 splice donor variant T/G snv
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776517
rs587776517
1.000 0.160 6 116911038 splice donor variant AGGTATCAATTACA/- delins
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587780440
rs587780440
1.000 0.160 6 116882403 missense variant C/T snv 4.0E-06
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs749827445
rs749827445
1.000 0.160 6 116928956 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs339331
rs339331
0.882 0.080 6 116888889 intron variant T/C snv 0.28
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs339331
rs339331
0.882 0.080 6 116888889 intron variant T/C snv 0.28
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs905283251
rs905283251
0.925 0.080 6 116919243 stop gained C/T snv 4.0E-06 2.8E-05
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs905283251
rs905283251
0.925 0.080 6 116919243 stop gained C/T snv 4.0E-06 2.8E-05
Maturity onset diabetes mellitus in young
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs905283251
rs905283251
0.925 0.080 6 116919243 stop gained C/T snv 4.0E-06 2.8E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019