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rs387906658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906658(C;C)
Make rs387906658(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101670362
GeneMYBPC1
is asnp
is mentioned by
dbSNPrs387906658
ebirs387906658
HLIrs387906658
Exacrs387906658
Varsomers387906658
Maprs387906658
PheGenIrs387906658
hapmaprs387906658
1000 genomesrs387906658
hgdprs387906658
ensemblrs387906658
gopubmedrs387906658
geneviewrs387906658
scholarrs387906658
googlers387906658
pharmgkbrs387906658
gwascentralrs387906658
openSNPrs387906658
23andMers387906658
23andMe allrs387906658
SNP Nexus

SNPshotrs387906658
SNPdbers387906658
MSV3drs387906658
GWAS Ctlgrs387906658
Max Magnitude0
ClinVar
Risk rs387906658(C;C)
Alt rs387906658(C;C)
Reference rs387906658(T;T)
Significance Pathogenic
Disease Distal arthrogryposis type 1B
Variation info
Gene MYBPC1
CLNDBN Distal arthrogryposis type 1B
Reversed 0
HGVS NC_000012.11:g.102064140T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022671.26,