CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Disease: Hyperparathyroidism-Jaw Tumor Syndrome ×
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: rs28942098
rs28942098 		1.000 0.160 1 193122203 start lost G/A;T snv
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.710 1.000 1 2019 2019
dbSNP: rs121434262
rs121434262 		1.000 0.160 1 193122225 stop gained C/A;T snv 4.0E-06
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs587776559
rs587776559 		1.000 0.160 1 193130173 splice acceptor variant G/A snv
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80356649
rs80356649 		0.882 0.160 1 193142016 frameshift variant -/AG ins 4.0E-06
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs971586985
rs971586985 		1.000 0.160 1 193212458 missense variant G/A;T snv 4.0E-06 2.1E-05
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs886041158
rs886041158 		1.000 0.160 1 193125206 stop gained C/T snv 7.0E-06
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011