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rs797044496

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044496(C;C)
Make rs797044496(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154349037
GeneFLNA
is asnp
is mentioned by
dbSNPrs797044496
ebirs797044496
HLIrs797044496
Exacrs797044496
Varsomers797044496
Maprs797044496
PheGenIrs797044496
hapmaprs797044496
1000 genomesrs797044496
hgdprs797044496
ensemblrs797044496
gopubmedrs797044496
geneviewrs797044496
scholarrs797044496
googlers797044496
pharmgkbrs797044496
gwascentralrs797044496
openSNPrs797044496
23andMers797044496
23andMe allrs797044496
SNP Nexus

SNPshotrs797044496
SNPdbers797044496
MSV3drs797044496
GWAS Ctlgrs797044496
Max Magnitude0
ClinVar
Risk rs797044496(C;C)
Alt rs797044496(C;C)
Reference rs797044496(G;G)
Significance Pathogenic
Disease X-linked periventricular heterotopia Oto-palato-digital syndrome
Variation info
Gene FLNA
CLNDBN X-linked periventricular heterotopia Oto-palato-digital syndrome, type I
Reversed 1
HGVS NC_000023.10:g.153577405C>G
CLNSRC
CLNACC RCV000153246.3, RCV000178620.1,