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rs797044724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044724(-;-)
Make rs797044724(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154353560
GeneFLNA
is asnp
is mentioned by
dbSNPrs797044724
dbSNP (old)rs797044724
ClinGenrs797044724
ebirs797044724
HLIrs797044724
Exacrs797044724
Varsomers797044724
Maprs797044724
PheGenIrs797044724
Biobankrs797044724
1000 genomesrs797044724
hgdprs797044724
ensemblrs797044724
gopubmedrs797044724
geneviewrs797044724
scholarrs797044724
googlers797044724
pharmgkbrs797044724
gwascentralrs797044724
openSNPrs797044724
23andMers797044724
23andMe allrs797044724
SNP Nexus

SNPshotrs797044724
SNPdbers797044724
MSV3drs797044724
GWAS Ctlgrs797044724
Max Magnitude0
ClinVar
Risk rs797044724(-;-)
Alt rs797044724(-;-)
Reference Rs797044724(G;G)
Significance Pathogenic
Disease Periventricular nodular heterotopia 1 Oto-palato-digital syndrome
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1 Oto-palato-digital syndrome, type I
Reversed 1
HGVS NC_000023.10:g.153581928delC
CLNSRC
CLNACC RCV000177835.1, RCV000177836.1,