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rs281865416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCGGA;TCGGA) 0 common in clinvar
Make rs281865416(AGGGG;AGGGG)
Make rs281865416(AGGGG;TCGGA)
ReferenceGRCh38 38.1/141
Chromosome11
Position19188253
GeneCSRP3
is asnp
is mentioned by
dbSNPrs281865416
ebirs281865416
HLIrs281865416
Exacrs281865416
Varsomers281865416
Maprs281865416
PheGenIrs281865416
hapmaprs281865416
1000 genomesrs281865416
hgdprs281865416
ensemblrs281865416
gopubmedrs281865416
geneviewrs281865416
scholarrs281865416
googlers281865416
pharmgkbrs281865416
gwascentralrs281865416
openSNPrs281865416
23andMers281865416
23andMe allrs281865416
SNP Nexus

SNPshotrs281865416
SNPdbers281865416
MSV3drs281865416
GWAS Ctlgrs281865416
Max Magnitude0
ClinVar
Risk rs281865416(AGGGG;AGGGG)
Alt rs281865416(AGGGG;AGGGG)
Reference rs281865416(TCGGA;TCGGA)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 12
Variation info
Gene CSRP3
CLNDBN Familial hypertrophic cardiomyopathy 12
Reversed 1
HGVS NC_000011.9:g.19209800_19209804delTCCGAinsCCCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009324.3,