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rs398123616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123616(-;-)
Make rs398123616(-;C)
Make rs398123616(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154361361
GeneFLNA
is asnp
is mentioned by
dbSNPrs398123616
ebirs398123616
HLIrs398123616
Exacrs398123616
Varsomers398123616
Maprs398123616
PheGenIrs398123616
hapmaprs398123616
1000 genomesrs398123616
hgdprs398123616
ensemblrs398123616
gopubmedrs398123616
geneviewrs398123616
scholarrs398123616
googlers398123616
pharmgkbrs398123616
gwascentralrs398123616
openSNPrs398123616
23andMers398123616
23andMe allrs398123616
SNP Nexus

SNPshotrs398123616
SNPdbers398123616
MSV3drs398123616
GWAS Ctlgrs398123616
Max Magnitude0
ClinVar
Risk rs398123616(C;C)
Alt rs398123616(C;C)
Reference rs398123616(;)
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.153589730dupG
CLNSRC ClinVar
CLNACC RCV000079692.3, RCV000176183.1, RCV000176184.1,