CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 4; N. variants: 12
Disease: Cardiomyopathies ×
Source: CLINVAR ×
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: rs1565050709
rs1565050709 		11 19186268 frameshift variant G/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs193922667
rs193922667 		11 19186265 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs902082118
rs902082118 		11 19186266 stop gained G/A snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0