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: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.860 1.000 50 1989 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 1993 2017
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2018 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata 		0.010 1.000 1 2015 2015
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2018 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.010 1.000 1 2018 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		0.010 1.000 1 2017 2017
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2018 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.010 1.000 1 2018 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 2012 2012