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rs863223298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTGCCGTGC;GTGCCGTGC) 0 common in clinvar
Make rs863223298(-;-)
Make rs863223298(-;GTGCCGTGC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154357467
GeneFLNA
is asnp
is mentioned by
dbSNPrs863223298
ClinGenrs863223298
ebirs863223298
HLIrs863223298
Exacrs863223298
Varsomers863223298
Maprs863223298
PheGenIrs863223298
hapmaprs863223298
1000 genomesrs863223298
hgdprs863223298
ensemblrs863223298
gopubmedrs863223298
geneviewrs863223298
scholarrs863223298
googlers863223298
pharmgkbrs863223298
gwascentralrs863223298
openSNPrs863223298
23andMers863223298
23andMe allrs863223298
SNP Nexus

SNPshotrs863223298
SNPdbers863223298
MSV3drs863223298
GWAS Ctlgrs863223298
Max Magnitude0
ClinVar
Risk rs863223298(-;-)
Alt rs863223298(-;-)
Reference Rs863223298(GTGCCGTGC;GTGCCGTGC)
Significance Pathogenic
Disease Otopalatodigital spectrum disorder
Variation info
Gene FLNA
CLNDBN Otopalatodigital spectrum disorder
Reversed 1
HGVS NC_000023.10:g.153585835_153585843delGCACGGCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012528.14,