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rs397515422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515422(C;T)
Make rs397515422(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101644783
GeneMYBPC1
is asnp
is mentioned by
dbSNPrs397515422
ebirs397515422
HLIrs397515422
Exacrs397515422
Varsomers397515422
Maprs397515422
PheGenIrs397515422
hapmaprs397515422
1000 genomesrs397515422
hgdprs397515422
ensemblrs397515422
gopubmedrs397515422
geneviewrs397515422
scholarrs397515422
googlers397515422
pharmgkbrs397515422
gwascentralrs397515422
openSNPrs397515422
23andMers397515422
23andMe allrs397515422
SNP Nexus

SNPshotrs397515422
SNPdbers397515422
MSV3drs397515422
GWAS Ctlgrs397515422
Max Magnitude0
ClinVar
Risk rs397515422(T;T)
Alt rs397515422(T;T)
Reference rs397515422(C;C)
Significance Pathogenic
Disease Lethal congenital contracture syndrome 4
Variation info
Gene MYBPC1
CLNDBN Lethal congenital contracture syndrome 4
Reversed 0
HGVS NC_000012.11:g.102038561C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032985.22,