CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
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: rs1057519384
rs1057519384 		1.000 0.080 1 193122213 frameshift variant CTTA/- del
CUI: C4072940
Disease: Ossifying fibroma of the jaw
Ossifying fibroma of the jaw 		Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1057519385
rs1057519385 		1.000 0.080 1 193122208 frameshift variant ACG/CT delins
CUI: C4072940
Disease: Ossifying fibroma of the jaw
Ossifying fibroma of the jaw 		Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1057519419
rs1057519419 		1.000 0.040 1 193125110 splice acceptor variant A/G;T snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.700 0
dbSNP: rs1060500009
rs1060500009 		1.000 0.080 1 193130178 frameshift variant A/- delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1060500012
rs1060500012 		1.000 0.080 1 193142067 splice donor variant G/T snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1060500019
rs1060500019 		1.000 0.080 1 193138111 frameshift variant GA/- delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1060500020
rs1060500020 		1.000 0.080 1 193122203 frameshift variant G/- delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
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: rs121434263
rs121434263 		1.000 0.080 1 193122328 stop gained G/A snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs121434265
rs121434265 		0.925 0.080 1 193125142 stop gained C/G snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1553279085
rs1553279085 		1.000 0.080 1 193138141 frameshift variant -/A delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1553279088
rs1553279088 		1.000 0.080 1 193138166 stop gained C/T snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1553288362
rs1553288362 		1.000 0.080 1 193212082 frameshift variant C/- delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1558276157
rs1558276157 		1.000 0.080 1 193122253 frameshift variant TT/- del
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs587776557
rs587776557 		1.000 1 193122253 frameshift variant T/- delins
CUI: C4017087
Disease: CYSTIC PARATHYROID ADENOMA, SOMATIC
CYSTIC PARATHYROID ADENOMA, SOMATIC 		0.700 0
dbSNP: rs587776558
rs587776558 		0.925 0.040 1 193122332 splice donor variant G/A snv
CUI: C2675664
Disease: PARATHYROID ADENOMA, SOMATIC
PARATHYROID ADENOMA, SOMATIC 		0.700 0
dbSNP: rs587776558
rs587776558 		0.925 0.040 1 193122332 splice donor variant G/A snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System 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: rs587776560
rs587776560 		1.000 0.080 1 193122282 frameshift variant G/- delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs587776561
rs587776561 		1.000 0.080 1 193122212 inframe deletion CTTAGCGTCCTGCGACAG/- delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs794727303
rs794727303 		1.000 0.080 1 193125218 splice donor variant G/C;T snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs80356649
rs80356649 		0.882 0.160 1 193142016 frameshift variant -/AG ins 4.0E-06
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs80356649
rs80356649 		0.882 0.160 1 193142016 frameshift variant -/AG ins 4.0E-06
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System 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