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: rs1060500015
rs1060500015 		1.000 0.040 1 193125168 missense variant T/C snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.700 1.000 5 2002 2008
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.800 1.000 5 2002 2008
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: rs1553278844
rs1553278844 		1.000 0.080 1 193135542 stop gained C/T snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1558276054
rs1558276054 		1.000 0.080 1 193122201 start lost A/G snv
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		Neoplasms; Endocrine System Diseases 0.700 1.000 1 2007 2007
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: 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
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: 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: 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: 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: 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