CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Kidney Calculi ×
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: rs7627468
rs7627468 		1.000 0.120 3 122227252 intron variant A/G snv 0.74
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: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.060 1.000 6 2006 2019
dbSNP: rs1501899
rs1501899 		0.790 0.240 3 122188481 intron variant A/G snv 0.62
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.040 1.000 4 2011 2019
dbSNP: rs6776158
rs6776158 		0.925 0.120 3 122183002 upstream gene variant G/A snv 0.61
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2013 2019
dbSNP: rs17251221
rs17251221 		0.724 0.360 3 122274400 intron variant A/G snv 0.11
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1801725
rs1801725 		0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs756322971
rs756322971 		0.763 0.240 3 122284955 missense variant C/A;G snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007