CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Disease: Hypertrophic Cardiomyopathy ×
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: rs104894204
rs104894204 		0.882 0.040 11 19188245 missense variant A/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.030 1.000 3 2004 2018
dbSNP: rs104894205
rs104894205 		0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267606753
rs267606753 		1.000 0.040 11 19188253 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018