SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
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: rs1566857461
rs1566857461 		1.000 0.120 15 48288475 splice donor variant TGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGTGTAAGTAGTTTG/- delins
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs377680472
rs377680472 		1.000 0.120 15 48227118 missense variant C/T snv 1.7E-04 2.2E-04
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs774515747
rs774515747 		1.000 0.120 15 48226575 splice region variant A/G;T snv 4.1E-06
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs779588655
rs779588655 		0.882 0.160 15 48234946 frameshift variant T/- delins 8.0E-06
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886039870
rs886039870 		1.000 0.120 15 48229307 missense variant G/C snv
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs12904216
rs12904216 		1.000 0.080 15 48231070 intron variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2291340
rs2291340 		1.000 0.160 15 48255779 intron variant T/C;G snv 0.27 0.36
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs746910658
rs746910658 		1.000 0.120 15 48299173 stop gained T/C;G snv 4.1E-06
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003