PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; 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: rs121434597
rs121434597 		0.851 0.120 3 46898691 missense variant A/G snv
CUI: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 6 1995 2017
dbSNP: rs121434598
rs121434598 		1.000 0.080 3 46902542 missense variant A/C snv
CUI: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 6 1995 2017
dbSNP: rs121434599
rs121434599 		1.000 0.120 3 46897936 missense variant C/T snv
CUI: C1859148
Disease: Chondrodysplasia, blomstrand type
Chondrodysplasia, blomstrand type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.800 1.000 1 1998 1998
dbSNP: rs121434600
rs121434600 		1.000 0.080 3 46902768 missense variant T/G snv
CUI: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs121434602
rs121434602 		1.000 0.080 3 46902543 missense variant C/G;T snv 1.2E-05
CUI: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs121434601
rs121434601 		0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		Musculoskeletal Diseases 0.720 1.000 2 2004 2008
dbSNP: rs2242116
rs2242116 		3 46899626 intron variant A/G snv 0.53
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2016 2019
dbSNP: rs11926707
rs11926707 		1.000 0.080 3 46884049 intron variant T/C snv 0.52
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4539969
rs4539969 		3 46890567 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121434603
rs121434603 		1.000 0.080 3 46903327 stop gained C/T snv
CUI: C1838779
Disease: Eiken Skeletal Dysplasia
Eiken Skeletal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121434604
rs121434604 		1.000 0.120 3 46895866 stop gained C/T snv
CUI: C1859148
Disease: Chondrodysplasia, blomstrand type
Chondrodysplasia, blomstrand type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs121434605
rs121434605 		1.000 0.040 3 46898112 stop gained G/A;T snv 4.0E-06
CUI: C1852222
Disease: Failure of Tooth Eruption, Primary
Failure of Tooth Eruption, Primary 		Stomatognathic Diseases 0.700 0
dbSNP: rs398122843
rs398122843 		1.000 0.120 3 46901797 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1859148
Disease: Chondrodysplasia, blomstrand type
Chondrodysplasia, blomstrand type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs769180471
rs769180471 		1.000 0.040 3 46898445 missense variant T/A;C snv 4.0E-06
CUI: C1852222
Disease: Failure of Tooth Eruption, Primary
Failure of Tooth Eruption, Primary 		Stomatognathic Diseases 0.700 0
dbSNP: rs1027263198
rs1027263198 		1.000 0.040 3 46898787 missense variant G/A snv 8.7E-06 1.4E-05
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121434597
rs121434597 		0.851 0.120 3 46898691 missense variant A/G snv
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121434597
rs121434597 		0.851 0.120 3 46898691 missense variant A/G snv
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121434597
rs121434597 		0.851 0.120 3 46898691 missense variant A/G snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 1.000 1 2020 2020
dbSNP: rs121434601
rs121434601 		0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121434601
rs121434601 		0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs200197785
rs200197785 		1.000 0.040 3 46897905 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008