Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894271
rs104894271
PTH
1.000 0.040 11 13492804 missense variant A/G snv
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.800 1.000 3 1990 2007
dbSNP: rs104894272
rs104894272
PTH
1.000 0.040 11 13492789 missense variant A/G snv
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.800 1.000 3 1990 2007
dbSNP: rs6256
rs6256
PTH
0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2017 2017
dbSNP: rs6256
rs6256
PTH
0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.700 0
dbSNP: rs1191724867
rs1191724867
PTH
1.000 0.120 11 13492413 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.010 1.000 1 2010 2010
dbSNP: rs307247
rs307247
PTH
0.925 0.120 11 13491931 downstream gene variant G/A snv 0.40
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.010 1.000 1 2018 2018
dbSNP: rs307247
rs307247
PTH
0.925 0.120 11 13491931 downstream gene variant G/A snv 0.40
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.010 1.000 1 2018 2018
dbSNP: rs307248
rs307248
PTH
0.925 0.120 11 13491818 downstream gene variant A/C snv 0.40
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.010 1.000 1 2018 2018
dbSNP: rs307248
rs307248
PTH
0.925 0.120 11 13491818 downstream gene variant A/C snv 0.40
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.010 1.000 1 2018 2018
dbSNP: rs6254
rs6254
PTH
0.925 0.080 11 13492716 intron variant C/A;T snv 4.0E-06; 0.28
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.010 1.000 1 2014 2014
dbSNP: rs6254
rs6254
PTH
0.925 0.080 11 13492716 intron variant C/A;T snv 4.0E-06; 0.28
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		0.010 1.000 1 2016 2016
dbSNP: rs6256
rs6256
PTH
0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 < 0.001 1 2012 2012
dbSNP: rs6256
rs6256
PTH
0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2014 2014
dbSNP: rs6256
rs6256
PTH
0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs749037995
rs749037995
PTH
1.000 0.200 11 13492551 frameshift variant G/- delins
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1 		0.010 1.000 1 2010 2010
dbSNP: rs750295789
rs750295789
PTH
0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism 		0.010 1.000 1 2018 2018
dbSNP: rs750295789
rs750295789
PTH
0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.010 1.000 1 2018 2018
dbSNP: rs750295789
rs750295789
PTH
0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.010 1.000 1 2018 2018
dbSNP: rs756406117
rs756406117
PTH
1.000 0.080 11 13492786 missense variant C/A snv 4.0E-06
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		0.010 1.000 1 2016 2016