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: 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
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C0153653
Disease: Malignant tumor of parathyroid gland
Malignant tumor of parathyroid gland 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121434265
rs121434265 		0.925 0.080 1 193125142 stop gained C/G snv
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121434265
rs121434265 		0.925 0.080 1 193125142 stop gained C/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs28942098
rs28942098 		1.000 0.160 1 193122203 start lost G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
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
dbSNP: rs971586985
rs971586985 		1.000 0.160 1 193212458 missense variant G/A;T snv 4.0E-06 2.1E-05
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs971586985
rs971586985 		1.000 0.160 1 193212458 missense variant G/A;T snv 4.0E-06 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006