Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 0.976 42 1989 2018
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0152451
Disease: Chronic glomerulonephritis
Chronic glomerulonephritis 		0.010 1.000 1 2016 2016
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C4699508
Disease: Cardioembolism (high-risk/medium-risk)
Cardioembolism (high-risk/medium-risk) 		0.010 1.000 1 2017 2017
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 1.000 1 2016 2016
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 1.000 1 2015 2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2012 2012
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2012 2012
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2015 2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		0.010 1.000 1 2014 2014
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2016 2016
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 1.000 1 2012 2012