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rs119463993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119463993(A;C)
Make rs119463993(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position105619962
GeneFKTN
is asnp
is mentioned by
dbSNPrs119463993
dbSNP (classic)rs119463993
ClinGenrs119463993
ebirs119463993
HLIrs119463993
Exacrs119463993
Gnomadrs119463993
Varsomers119463993
LitVarrs119463993
Maprs119463993
PheGenIrs119463993
Biobankrs119463993
1000 genomesrs119463993
hgdprs119463993
ensemblrs119463993
geneviewrs119463993
scholarrs119463993
googlers119463993
pharmgkbrs119463993
gwascentralrs119463993
openSNPrs119463993
23andMers119463993
SNPshotrs119463993
SNPdbers119463993
MSV3drs119463993
GWAS Ctlgrs119463993
Max Magnitude0
OMIM607440
Desc
Variant0010
Relatedalso
ClinVar
Risk rs119463993(C;C)
Alt rs119463993(C;C)
Reference Rs119463993(A;A)
Significance Pathogenic
Disease Dilated cardiomyopathy 1X
Variation info
Gene FKTN
CLNDBN Dilated cardiomyopathy 1X
Reversed 0
HGVS NC_000009.11:g.108382243A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003364.3,