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rs398123614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123614(C;T)
Make rs398123614(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154362044
GeneFLNA
is asnp
is mentioned by
dbSNPrs398123614
ebirs398123614
HLIrs398123614
Exacrs398123614
Varsomers398123614
Maprs398123614
PheGenIrs398123614
hapmaprs398123614
1000 genomesrs398123614
hgdprs398123614
ensemblrs398123614
gopubmedrs398123614
geneviewrs398123614
scholarrs398123614
googlers398123614
pharmgkbrs398123614
gwascentralrs398123614
openSNPrs398123614
23andMers398123614
23andMe allrs398123614
SNP Nexus

SNPshotrs398123614
SNPdbers398123614
MSV3drs398123614
GWAS Ctlgrs398123614
Max Magnitude0
ClinVar
Risk rs398123614(T;T)
Alt rs398123614(T;T)
Reference rs398123614(C;C)
Significance Pathogenic
Disease not provided Oto-palato-digital syndrome X-linked periventricular heterotopia
Variation info
Gene FLNA
CLNDBN not provided Oto-palato-digital syndrome, type I X-linked periventricular heterotopia
Reversed 1
HGVS NC_000023.10:g.153590412G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079689.3, RCV000175416.1, RCV000175417.1,