DGKH, diacylglycerol kinase eta, 160851

N. diseases: 39; N. variants: 24
Disease: Nephrolithiasis ×
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: rs4142110
rs4142110 		0.925 0.120 13 42180386 intron variant T/C snv 0.34
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.830 1.000 3 2012 2017
dbSNP: rs7981733
rs7981733 		0.925 0.120 13 42115924 intron variant C/A;T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 2012 2013
dbSNP: rs912875
rs912875 		1.000 0.080 13 42103102 intron variant A/C;T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9315891
rs9315891 		1.000 0.080 13 42124943 intron variant C/T snv 0.44
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1170155
rs1170155 		0.925 0.120 13 42128575 intron variant C/T snv 0.65
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17646069
rs17646069 		0.925 0.120 13 42229127 missense variant T/C snv 4.5E-02 2.7E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017