rs121908248
|
0.925 |
0.200 |
6 |
131860388 |
missense variant |
G/C;T
|
snv
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918023
|
1.000 |
0.040 |
6 |
131890410 |
stop gained |
G/T
|
snv
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918025
|
0.925 |
0.080 |
6 |
131861704 |
missense variant |
G/T
|
snv
|
|
|
Coronary Sclerosis, Medial, of Infancy
|
Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1231182870
|
1.000 |
0.040 |
6 |
131854961 |
missense variant |
A/T
|
snv
|
|
7.0E-06
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1243920034
|
0.925 |
0.040 |
6 |
131873023 |
missense variant |
A/G
|
snv
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs143393727
|
1.000 |
0.040 |
6 |
131879910 |
missense variant |
A/G
|
snv
|
1.6E-05
|
4.2E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs143771474
|
1.000 |
0.040 |
6 |
131860417 |
missense variant |
G/A
|
snv
|
1.2E-05
|
5.6E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554203715
|
1.000 |
0.040 |
6 |
131864551 |
frameshift variant |
CAGCTTCCTAA/-
|
delins
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554278331
|
1.000 |
0.200 |
6 |
131850106 |
splice donor variant |
G/-
|
delins
|
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1562523328
|
1.000 |
0.040 |
6 |
131861679 |
missense variant |
C/G
|
snv
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs184483616
|
1.000 |
0.040 |
6 |
131890395 |
missense variant |
C/G;T
|
snv
|
2.8E-05
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs190947144
|
1.000 |
0.080 |
6 |
131860451 |
missense variant |
C/T
|
snv
|
3.8E-04
|
3.1E-04
|
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs267606784
|
1.000 |
0.040 |
6 |
131858735 |
stop gained |
C/G
|
snv
|
4.0E-06
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs373044722
|
0.925 |
0.200 |
6 |
131872926 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs587776797
|
1.000 |
0.200 |
6 |
131883709 |
frameshift variant |
-/A
|
delins
|
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs753851892
|
1.000 |
0.040 |
6 |
131858748 |
splice donor variant |
G/A
|
snv
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs763922486
|
0.925 |
0.200 |
6 |
131849999 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs763922486
|
0.925 |
0.200 |
6 |
131849999 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1799774
|
0.882 |
0.200 |
6 |
131882331 |
intron variant |
T/-
|
delins
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs7754561
|
0.882 |
0.200 |
6 |
131891554 |
3 prime UTR variant |
A/G
|
snv
|
|
0.44
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs997509
|
0.827 |
0.200 |
6 |
131846837 |
intron variant |
C/T
|
snv
|
|
5.3E-02
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1044498
|
0.752 |
0.360 |
6 |
131851228 |
missense variant |
A/C;G
|
snv
|
0.19
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1044498
|
0.752 |
0.360 |
6 |
131851228 |
missense variant |
A/C;G
|
snv
|
0.19
|
|
Kidney Failure, Chronic
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
< 0.001 |
1 |
2008 |
2008 |
rs1044498
|
0.752 |
0.360 |
6 |
131851228 |
missense variant |
A/C;G
|
snv
|
0.19
|
|
Chronic kidney disease stage 5
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
< 0.001 |
1 |
2008 |
2008 |
rs1044498
|
0.752 |
0.360 |
6 |
131851228 |
missense variant |
A/C;G
|
snv
|
0.19
|
|
Kidney Failure
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
< 0.001 |
1 |
2008 |
2008 |