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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.860 1.000 51 1989 2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 1.000 2 2010 2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.010 1.000 1 2015 2015
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2015 2015
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		0.010 1.000 1 2016 2016