Details for SMAD6:

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
6707360166781263
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SMAD6
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.223e-060.00.00.00.00.09.428e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.321778Disease causing
DBSNP ID NA
1 combination linked to SMAD6: OLI1366
1 disease linked to SMAD6: Non-syndromic metopic craniosynostosis

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