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: rs104893959
rs104893959 		0.925 0.040 6 10877343 missense variant C/A;T snv 2.0E-05; 8.0E-06
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		Endocrine System Diseases 0.800 1.000 5 2005 2012
dbSNP: rs104893960
rs104893960 		0.925 0.040 6 10877296 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		Endocrine System Diseases 0.800 1.000 5 2005 2012
dbSNP: rs533942394
rs533942394 		0.925 0.120 6 10874012 missense variant T/C;G snv 4.0E-06; 2.5E-04
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		Endocrine System Diseases 0.700 1.000 5 2005 2012
dbSNP: rs142287570
rs142287570 		1.000 6 10874335 missense variant T/G snv 6.6E-04 4.9E-04
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.700 1.000 1 2016 2016
dbSNP: rs1554103179
rs1554103179 		1.000 0.040 6 10876493 stop gained G/T snv
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057519581
rs1057519581 		1.000 6 10874765 missense variant G/C snv
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.700 0
dbSNP: rs1057519582
rs1057519582 		1.000 6 10874380 missense variant A/T snv
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.700 0
dbSNP: rs371918069
rs371918069 		1.000 6 10874372 missense variant C/T snv 5.6E-05 5.6E-05
CUI: C4479229
Disease: HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM 4 		0.700 0
dbSNP: rs759190203
rs759190203 		1.000 0.040 6 10876442 splice donor variant -/A delins 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs759190203
rs759190203 		1.000 0.040 6 10876442 splice donor variant -/A delins 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs780594439
rs780594439 		0.925 0.040 6 10877155 missense variant G/A snv 4.0E-06
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		Endocrine System Diseases 0.700 0
dbSNP: rs886037646
rs886037646 		1.000 0.040 6 10874623 frameshift variant A/- del
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		Endocrine System Diseases 0.700 0
dbSNP: rs104893959
rs104893959 		0.925 0.040 6 10877343 missense variant C/A;T snv 2.0E-05; 8.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104893960
rs104893960 		0.925 0.040 6 10877296 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs142287570
rs142287570 		1.000 6 10874335 missense variant T/G snv 6.6E-04 4.9E-04
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs371918069
rs371918069 		1.000 6 10874372 missense variant C/T snv 5.6E-05 5.6E-05
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs533942394
rs533942394 		0.925 0.120 6 10874012 missense variant T/C;G snv 4.0E-06; 2.5E-04
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs61734277
rs61734277 		0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61734277
rs61734277 		0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61734277
rs61734277 		0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs61734277
rs61734277 		0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs61734277
rs61734277 		0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs780594439
rs780594439 		0.925 0.040 6 10877155 missense variant G/A snv 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2010 2010