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rs45495192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45495192(C;T)
Make rs45495192(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position39665391
GeneTCAP
is asnp
is mentioned by
dbSNPrs45495192
ebirs45495192
HLIrs45495192
Exacrs45495192
Varsomers45495192
Maprs45495192
PheGenIrs45495192
hapmaprs45495192
1000 genomesrs45495192
hgdprs45495192
ensemblrs45495192
gopubmedrs45495192
geneviewrs45495192
scholarrs45495192
googlers45495192
pharmgkbrs45495192
gwascentralrs45495192
openSNPrs45495192
23andMers45495192
23andMe allrs45495192
SNP Nexus

SNPshotrs45495192
SNPdbers45495192
MSV3drs45495192
GWAS Ctlgrs45495192
Max Magnitude0
ClinVar
Risk rs45495192(A,G,T;A,G,T)
Alt rs45495192(A,G,T;A,G,T)
Reference rs45495192(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy not specified Dilated cardiomyopathy 1N Primary familial hypertrophic cardiomyopathy
Variation info
Gene TCAP
CLNDBN Limb-girdle muscular dystrophy, type 2G not specified Dilated cardiomyopathy 1N Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000017.10:g.37821644C>A; NC_000017.10:g.37821644C>T
CLNSRC ClinVar
CLNACC RCV000128799.1, RCV000154598.2, RCV000232686.1,