rs746910658
|
1.000 |
0.120 |
15 |
48299173 |
stop gained |
T/C;G
|
snv
|
4.1E-06
|
|
Bartter Disease
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs765347751
|
1.000 |
0.120 |
15 |
48246978 |
missense variant |
G/A
|
snv
|
2.8E-05
|
2.8E-05
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2017 |
rs137853157
|
1.000 |
0.120 |
15 |
48251770 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
1 |
1996 |
1996 |
rs137853158
|
1.000 |
0.120 |
15 |
48229278 |
missense variant |
G/T
|
snv
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
1 |
1996 |
1996 |
rs1057519608
|
1.000 |
0.120 |
15 |
48259251 |
frameshift variant |
G/-
|
delins
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057520300
|
1.000 |
0.120 |
15 |
48234926 |
frameshift variant |
C/-
|
del
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057520301
|
1.000 |
0.120 |
15 |
48251711 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057520302
|
1.000 |
0.120 |
15 |
48288429 |
frameshift variant |
-/C
|
delins
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057520303
|
1.000 |
0.120 |
15 |
48285113 |
frameshift variant |
GA/-
|
delins
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057520304
|
1.000 |
0.120 |
15 |
48251657 |
frameshift variant |
TT/-;T
|
delins
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs137853159
|
1.000 |
0.120 |
15 |
48251703 |
stop gained |
G/A
|
snv
|
8.8E-05
|
3.2E-04
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1566857461
|
1.000 |
0.120 |
15 |
48288475 |
splice donor variant |
TGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGTGTAAGTAGTTTG/-
|
delins
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs377680472
|
1.000 |
0.120 |
15 |
48227118 |
missense variant |
C/T
|
snv
|
1.7E-04
|
2.2E-04
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs774515747
|
1.000 |
0.120 |
15 |
48226575 |
splice region variant |
A/G;T
|
snv
|
4.1E-06
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs779588655
|
0.882 |
0.160 |
15 |
48234946 |
frameshift variant |
T/-
|
delins
|
8.0E-06
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs886039870
|
1.000 |
0.120 |
15 |
48229307 |
missense variant |
G/C
|
snv
|
|
|
Bartter syndrome, antenatal type 1
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs12904216
|
1.000 |
0.080 |
15 |
48231070 |
intron variant |
A/G
|
snv
|
|
0.62
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1878186
|
1.000 |
0.080 |
15 |
48216203 |
intron variant |
C/T
|
snv
|
|
0.81
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555466999
|
0.925 |
0.120 |
15 |
48244876 |
missense variant |
G/A
|
snv
|
|
|
Nephrocalcinosis
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs779588655
|
0.882 |
0.160 |
15 |
48234946 |
frameshift variant |
T/-
|
delins
|
8.0E-06
|
|
Nephrocalcinosis
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs896545456
|
0.925 |
0.120 |
15 |
48229233 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Nephrocalcinosis
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1555466999
|
0.925 |
0.120 |
15 |
48244876 |
missense variant |
G/A
|
snv
|
|
|
Nephrolithiasis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs779588655
|
0.882 |
0.160 |
15 |
48234946 |
frameshift variant |
T/-
|
delins
|
8.0E-06
|
|
Nephrolithiasis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs896545456
|
0.925 |
0.120 |
15 |
48229233 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Nephrolithiasis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs11070629
|
|
|
15 |
48235916 |
intron variant |
G/A;C
|
snv
|
|
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |