Details for SMAD6:

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
6700402766711689
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SMAD6
REFERENCE ALLELE C
ALTERNATE ALLELE CT
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.304327Disease causing
DBSNP ID NA
1 combination linked to SMAD6: OLI1361
1 disease linked to SMAD6: Non-syndromic sagittal craniosynostosis

Found any issues with the data on this page? Report this entry.