Details for SMAD6:

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
6707385166781513
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SMAD6
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.9693Disease causing
DBSNP ID NA
1 combination linked to SMAD6: OLI1368
1 disease linked to SMAD6: Non-syndromic metopic and sagittal craniosynostosis

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