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rs1057515583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057515583(-;AA)
Make rs1057515583(AA;AA)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154362745
GeneFLNA
is asnp
is mentioned by
dbSNPrs1057515583
dbSNP (old)rs1057515583
ClinGenrs1057515583
ebirs1057515583
HLIrs1057515583
Exacrs1057515583
Gnomadrs1057515583
Varsomers1057515583
LitVarrs1057515583
Maprs1057515583
PheGenIrs1057515583
Biobankrs1057515583
1000 genomesrs1057515583
hgdprs1057515583
ensemblrs1057515583
gopubmedrs1057515583
geneviewrs1057515583
scholarrs1057515583
googlers1057515583
pharmgkbrs1057515583
gwascentralrs1057515583
openSNPrs1057515583
23andMers1057515583
23andMe allrs1057515583
SNPshotrs1057515583
SNPdbers1057515583
MSV3drs1057515583
GWAS Ctlgrs1057515583
Max Magnitude0
ClinVar
Risk rs1057515583(AA;AA)
Alt rs1057515583(AA;AA)
Reference Rs1057515583(-;-)
Significance Pathogenic
Disease Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153591113_153591114insTT
CLNSRC
CLNACC RCV000336798.1,