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: 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: rs28942098
rs28942098
1.000 0.160 1 193122203 start lost G/A;T snv
Hyperparathyroidism-Jaw Tumor Syndrome
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.710 1.000 1 2019 2019
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: rs760591174
rs760591174
1.000 0.080 1 193142016 frameshift variant AGAG/-;AGAGAG delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma
Neoplasms; Endocrine System Diseases 0.700 1.000 3 2002 2014
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: rs1558276082
rs1558276082
1.000 0.080 1 193122209 frameshift variant -/GCTTAGCGTCCTGCGACAGT delins
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma
Neoplasms; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs200922190
rs200922190
1.000 0.040 1 193234361 intron variant -/ATAATT delins 0.16
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
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
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