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: rs11070627
rs11070627 		15 48179327 intron variant A/T snv 0.83
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs11070629
rs11070629 		15 48235916 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12913316
rs12913316 		15 48195657 intron variant C/T snv 0.81
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs1320052
rs1320052 		15 48203311 3 prime UTR variant C/T snv 0.83
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs1531916
rs1531916 		15 48234074 intron variant G/A snv 0.75
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs16960682
rs16960682 		15 48227465 non coding transcript exon variant G/A;C snv
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs1843144
rs1843144 		15 48232325 intron variant G/A;C snv
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs2413890
rs2413890 		15 48234165 intron variant G/T snv 0.61
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
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: rs1555466999
rs1555466999 		0.925 0.120 15 48244876 missense variant G/A snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs779588655
rs779588655 		0.882 0.160 15 48234946 frameshift variant T/- delins 8.0E-06
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs896545456
rs896545456 		0.925 0.120 15 48229233 missense variant G/A snv 7.0E-06
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs765347751
rs765347751 		1.000 0.120 15 48246978 missense variant G/A snv 2.8E-05 2.8E-05
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 1.000 4 1998 2017
dbSNP: rs137853157
rs137853157 		1.000 0.120 15 48251770 missense variant G/A;C snv 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 0.800 1.000 1 1996 1996
dbSNP: rs137853158
rs137853158 		1.000 0.120 15 48229278 missense variant G/T 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 0.800 1.000 1 1996 1996
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
dbSNP: rs1057519608
rs1057519608 		1.000 0.120 15 48259251 frameshift variant G/- 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: rs1057520300
rs1057520300 		1.000 0.120 15 48234926 frameshift variant C/- del
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: rs1057520301
rs1057520301 		1.000 0.120 15 48251711 missense variant C/A;G snv 4.0E-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: rs1057520302
rs1057520302 		1.000 0.120 15 48288429 frameshift variant -/C 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: rs1057520303
rs1057520303 		1.000 0.120 15 48285113 frameshift variant GA/- 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: rs1057520304
rs1057520304 		1.000 0.120 15 48251657 frameshift variant TT/-;T 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: rs137853159
rs137853159 		1.000 0.120 15 48251703 stop gained G/A snv 8.8E-05 3.2E-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: 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