IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; 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: rs121917852
rs121917852 		1.000 0.080 2 219060185 missense variant C/T snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 4 2001 2019
dbSNP: rs121917853
rs121917853 		1.000 0.080 2 219057619 missense variant C/T snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2001 2011
dbSNP: rs121917854
rs121917854 		1.000 0.080 2 219060168 missense variant G/T snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2001 2011
dbSNP: rs121917855
rs121917855 		1.000 0.080 2 219060170 missense variant C/T snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2001 2011
dbSNP: rs121917856
rs121917856 		1.000 0.120 2 219060331 missense variant G/A snv
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2003 2003
dbSNP: rs121917857
rs121917857 		1.000 0.120 2 219057441 missense variant A/G snv
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2003 2003
dbSNP: rs200216644
rs200216644 		2 219055221 missense variant C/T snv 1.2E-04; 5.1E-06 7.7E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs76709099
rs76709099 		2 219055182 3 prime UTR variant C/A snv 6.8E-03 2.1E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121917859
rs121917859 		1.000 0.080 2 219060184 missense variant T/C snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121917861
rs121917861 		1.000 0.080 2 219057549 missense variant G/A snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553540620
rs1553540620 		1.000 2 219060317 missense variant G/T snv
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0
dbSNP: rs1553540620
rs1553540620 		1.000 2 219060317 missense variant G/T snv
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs267606872
rs267606872 		1.000 0.080 2 219057621 missense variant G/T snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606873
rs267606873 		1.000 0.080 2 219057627 missense variant C/T snv
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs57408770
rs57408770 		1.000 0.080 2 219058688 non coding transcript exon variant -/AAG delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs57408770
rs57408770 		1.000 0.080 2 219058688 non coding transcript exon variant -/AAG delins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017