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rs1060500718

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1060500718(-;-)
Make rs1060500718(-;CT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154353329
GeneFLNA
is asnp
is mentioned by
dbSNPrs1060500718
dbSNP (old)rs1060500718
ClinGenrs1060500718
ebirs1060500718
HLIrs1060500718
Exacrs1060500718
Gnomadrs1060500718
Varsomers1060500718
Maprs1060500718
PheGenIrs1060500718
Biobankrs1060500718
1000 genomesrs1060500718
hgdprs1060500718
ensemblrs1060500718
gopubmedrs1060500718
geneviewrs1060500718
scholarrs1060500718
googlers1060500718
pharmgkbrs1060500718
gwascentralrs1060500718
openSNPrs1060500718
23andMers1060500718
23andMe allrs1060500718
SNPshotrs1060500718
SNPdbers1060500718
MSV3drs1060500718
GWAS Ctlgrs1060500718
Max Magnitude0
ClinVar
Risk rs1060500718(-;-)
Alt rs1060500718(-;-)
Reference Rs1060500718(CT;CT)
Significance Pathogenic
Disease Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153581697_153581698delAG
CLNSRC
CLNACC RCV000466787.1,