CREBRF, CREB3 regulatory factor, 153222

N. diseases: 50; N. variants: 14
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: rs13153580
rs13153580 		1.000 0.040 5 173085086 intron variant G/A snv 0.39
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs171644
rs171644 		1.000 0.040 5 173072336 intron variant C/G;T snv
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs251230
rs251230 		1.000 0.040 5 173099567 intron variant G/A snv 0.28
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs29776
rs29776 		1.000 0.040 5 173054815 upstream gene variant G/C snv 0.51
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs29777
rs29777 		1.000 0.040 5 173054411 upstream gene variant G/C;T snv
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3095843
rs3095843 		1.000 0.040 5 173074826 intron variant G/A snv 0.40
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3095844
rs3095844 		5 173057038 intron variant C/A;G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3095847
rs3095847 		1.000 0.040 5 173130982 intron variant C/T snv 0.39
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs400858
rs400858 		1.000 0.040 5 173102005 intron variant C/G;T snv
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs40264
rs40264 		1.000 0.040 5 173113509 intron variant C/T snv 0.41
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs412673
rs412673 		1.000 0.040 5 173067869 intron variant G/A snv 0.39
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs435216
rs435216 		1.000 0.040 5 173065589 intron variant C/T snv 0.39
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs623576
rs623576 		1.000 0.040 5 173100463 intron variant C/T snv 0.39
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs373863828
rs373863828 		0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2018 2020
dbSNP: rs373863828
rs373863828 		0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs373863828
rs373863828 		0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs373863828
rs373863828 		0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs373863828
rs373863828 		0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs373863828
rs373863828 		0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019