HHIP, hedgehog interacting protein, 64399

N. diseases: 122; N. variants: 16
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: rs1492820
rs1492820 		4 144728869 intron variant G/A snv 0.50
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2008 2008
dbSNP: rs1492820
rs1492820 		4 144728869 intron variant G/A snv 0.50
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs6854783
rs6854783 		4 144721927 intron variant G/A;C snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs6854783
rs6854783 		4 144721927 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2008 2008
dbSNP: rs1812175
rs1812175 		4 144653692 intron variant A/G snv 0.79
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2008 2010
dbSNP: rs7689420
rs7689420 		0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2010 2013
dbSNP: rs1812175
rs1812175 		4 144653692 intron variant A/G snv 0.79
CUI: C0455806
Disease: Infant length
Infant length 		0.700 1.000 1 2015 2015
dbSNP: rs146535482
rs146535482 		1.000 0.080 4 144658851 missense variant G/C snv 1.1E-03 3.9E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs146535482
rs146535482 		1.000 0.080 4 144658851 missense variant G/C snv 1.1E-03 3.9E-03
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs200798148
rs200798148 		1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs200798148
rs200798148 		1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs61730970
rs61730970 		1.000 0.080 4 144659714 missense variant G/A snv 5.4E-03 2.2E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61730970
rs61730970 		1.000 0.080 4 144659714 missense variant G/A snv 5.4E-03 2.2E-02
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6537307
rs6537307 		4 144680711 intron variant A/G snv 0.39
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs13106087
rs13106087 		4 144645712 non coding transcript exon variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs1812175
rs1812175 		4 144653692 intron variant A/G snv 0.79
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1812175
rs1812175 		4 144653692 intron variant A/G snv 0.79
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1812175
rs1812175 		4 144653692 intron variant A/G snv 0.79
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2131354
rs2131354 		4 144678756 intron variant G/A snv 0.41
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs7654947
rs7654947 		1.000 0.040 4 144704578 intron variant C/T snv 0.57
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7689420
rs7689420 		0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11727676
rs11727676 		0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 3 2015 2018
dbSNP: rs11727676
rs11727676 		0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11727676
rs11727676 		0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1812175
rs1812175 		4 144653692 intron variant A/G snv 0.79
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 4 2008 2019