rs886041154
|
0.882 |
0.160 |
3 |
122254353 |
missense variant |
C/T
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
9 |
1995 |
2014 |
rs28936684
|
0.827 |
0.160 |
3 |
122261715 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
8 |
1992 |
2016 |
rs121909258
|
0.882 |
0.160 |
3 |
122284337 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
6 |
1993 |
2011 |
rs1482119762
|
0.851 |
0.200 |
3 |
122261693 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
1991 |
2007 |
rs1085307984
|
0.925 |
0.160 |
3 |
122261714 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
3 |
2011 |
2016 |
rs201633414
|
0.925 |
0.160 |
3 |
122254262 |
stop gained |
C/A;T
|
snv
|
8.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2011 |
rs1057520791
|
0.882 |
0.160 |
3 |
122284611 |
missense variant |
G/A;C
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1060502855
|
0.882 |
0.160 |
3 |
122261567 |
missense variant |
A/G
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909260
|
0.882 |
0.160 |
3 |
122257275 |
missense variant |
A/C;G
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909264
|
0.851 |
0.160 |
3 |
122257323 |
missense variant |
G/A
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553731681
|
1.000 |
0.120 |
3 |
122261678 |
missense variant |
G/C
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553766768
|
0.925 |
0.160 |
3 |
122261768 |
stop gained |
C/T
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553768972
|
0.925 |
0.160 |
3 |
122283924 |
frameshift variant |
C/-
|
delins
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922419
|
1.000 |
0.120 |
3 |
122262093 |
missense variant |
A/C
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922421
|
1.000 |
0.120 |
3 |
122262279 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922422
|
1.000 |
0.120 |
3 |
122275945 |
frameshift variant |
GTTT/-
|
delins
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922423
|
0.925 |
0.120 |
3 |
122275959 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922424
|
1.000 |
0.120 |
3 |
122254354 |
frameshift variant |
G/-
|
delins
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922425
|
1.000 |
0.120 |
3 |
122282180 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922426
|
1.000 |
0.120 |
3 |
122282189 |
missense variant |
G/C
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922427
|
1.000 |
0.120 |
3 |
122282189 |
missense variant |
GC/CT
|
mnv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922429
|
1.000 |
0.120 |
3 |
122283837 |
frameshift variant |
C/-
|
delins
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922431
|
1.000 |
0.120 |
3 |
122283968 |
missense variant |
C/A
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922432
|
1.000 |
0.120 |
3 |
122257101 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs193922433
|
1.000 |
0.120 |
3 |
122284197 |
missense variant |
C/A;T
|
snv
|
|
|
Familial benign hypercalcemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|