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rs137853310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853310(C;T)
Make rs137853310(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154367920
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853310
dbSNP (classic)rs137853310
ClinGenrs137853310
ebirs137853310
HLIrs137853310
Exacrs137853310
Gnomadrs137853310
Varsomers137853310
LitVarrs137853310
Maprs137853310
PheGenIrs137853310
Biobankrs137853310
1000 genomesrs137853310
hgdprs137853310
ensemblrs137853310
geneviewrs137853310
scholarrs137853310
googlers137853310
pharmgkbrs137853310
gwascentralrs137853310
openSNPrs137853310
23andMers137853310
SNPshotrs137853310
SNPdbers137853310
MSV3drs137853310
GWAS Ctlgrs137853310
Max Magnitude0
OMIM300017
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853310(T;T)
Alt rs137853310(T;T)
Reference Rs137853310(C;C)
Significance Pathogenic
Disease Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153596288G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012513.17,