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rs387906657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906657(C;C)
Make rs387906657(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101642459
GeneMYBPC1
is asnp
is mentioned by
dbSNPrs387906657
ebirs387906657
HLIrs387906657
Exacrs387906657
Varsomers387906657
Maprs387906657
PheGenIrs387906657
hapmaprs387906657
1000 genomesrs387906657
hgdprs387906657
ensemblrs387906657
gopubmedrs387906657
geneviewrs387906657
scholarrs387906657
googlers387906657
pharmgkbrs387906657
gwascentralrs387906657
openSNPrs387906657
23andMers387906657
23andMe allrs387906657
SNP Nexus

SNPshotrs387906657
SNPdbers387906657
MSV3drs387906657
GWAS Ctlgrs387906657
Max Magnitude0
ClinVar
Risk rs387906657(C;C)
Alt rs387906657(C;C)
Reference rs387906657(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.102036237T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022670.26,