Details for SMAD6:

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
6707377566781437
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SMAD6
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.619e-050.00.00035220.05.685e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.336384Disease causing
DBSNP ID NA
1 combination linked to SMAD6: OLI1367
1 disease linked to SMAD6: Non-syndromic metopic craniosynostosis

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