CLDN14, claudin 14, 23562

N. diseases: 36; N. variants: 17
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: rs219780
rs219780 		0.925 0.120 21 36461009 synonymous variant C/A;T snv 4.0E-06; 0.16
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 2 2009 2015
dbSNP: rs368027306
rs368027306 		1.000 21 36461454 missense variant C/A;T snv 1.6E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.800 1.000 3 2001 2013
dbSNP: rs74315437
rs74315437 		1.000 21 36461442 missense variant A/G;T snv 4.0E-06; 2.0E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.800 1.000 3 2001 2013
dbSNP: rs786204841
rs786204841 		1.000 21 36461002 missense variant C/T snv
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.800 0
dbSNP: rs219778
rs219778 		0.925 0.120 21 36462343 intron variant A/G snv 0.31
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 2009 2015
dbSNP: rs128494
rs128494 		21 36461960 intron variant T/C snv 0.72
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2018 2019
dbSNP: rs143797113
rs143797113 		1.000 21 36461208 missense variant G/A snv 2.9E-04 4.5E-04
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 1.000 2 2016 2017
dbSNP: rs128494
rs128494 		21 36461960 intron variant T/C snv 0.72
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs128494
rs128494 		21 36461960 intron variant T/C snv 0.72
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs128494
rs128494 		21 36461960 intron variant T/C snv 0.72
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs170183
rs170183 		21 36476036 intron variant G/A snv 0.40
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2014 2014
dbSNP: rs170183
rs170183 		21 36476036 intron variant G/A snv 0.40
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2014 2014
dbSNP: rs199565725
rs199565725 		1.000 0.120 21 36462941 intron variant CA/- delins 6.6E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs219778
rs219778 		0.925 0.120 21 36462343 intron variant A/G snv 0.31
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs219779
rs219779 		21 36461453 synonymous variant G/A snv 0.21 0.25
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.700 1.000 1 2017 2017
dbSNP: rs219781
rs219781 		1.000 0.120 21 36460323 non coding transcript exon variant G/T snv 0.25
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs219781
rs219781 		1.000 0.120 21 36460323 non coding transcript exon variant G/T snv 0.25
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs7277076
rs7277076 		1.000 0.080 21 36464675 intron variant T/C snv 0.52
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs7277076
rs7277076 		1.000 0.080 21 36464675 intron variant T/C snv 0.52
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1568839335
rs1568839335 		1.000 21 36461505 missense variant C/T snv
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs371100799
rs371100799 		1.000 21 36461529 stop gained C/T snv 2.4E-05 2.8E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs74315437
rs74315437 		1.000 21 36461442 missense variant A/G;T snv 4.0E-06; 2.0E-05
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs74315438
rs74315438 		1.000 21 36461395 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs786200885
rs786200885 		1.000 21 36461298 frameshift variant A/- del 4.1E-06
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs786204841
rs786204841 		1.000 21 36461002 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0