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rs398123620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123620(-;-)
Make rs398123620(-;AT)
Make rs398123620(AT;AT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154359010
GeneFLNA
is asnp
is mentioned by
dbSNPrs398123620
ebirs398123620
HLIrs398123620
Exacrs398123620
Varsomers398123620
Maprs398123620
PheGenIrs398123620
hapmaprs398123620
1000 genomesrs398123620
hgdprs398123620
ensemblrs398123620
gopubmedrs398123620
geneviewrs398123620
scholarrs398123620
googlers398123620
pharmgkbrs398123620
gwascentralrs398123620
openSNPrs398123620
23andMers398123620
23andMe allrs398123620
SNP Nexus

SNPshotrs398123620
SNPdbers398123620
MSV3drs398123620
GWAS Ctlgrs398123620
Max Magnitude0
ClinVar
Risk rs398123620(AT;AT)
Alt rs398123620(AT;AT)
Reference rs398123620(;)
Significance Pathogenic
Disease not provided X-linked periventricular heterotopia Oto-palato-digital syndrome
Variation info
Gene FLNA
CLNDBN not provided X-linked periventricular heterotopia Oto-palato-digital syndrome, type I
Reversed 1
HGVS NC_000023.10:g.153587378_153587379insAT
CLNSRC ClinVar
CLNACC RCV000079698.3, RCV000170414.2, RCV000176639.1,