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rs137853313

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853313(C;G)
Make rs137853313(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154371130
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853313
dbSNP (old)rs137853313
ClinGenrs137853313
ebirs137853313
HLIrs137853313
Exacrs137853313
Gnomadrs137853313
Varsomers137853313
Maprs137853313
PheGenIrs137853313
Biobankrs137853313
1000 genomesrs137853313
hgdprs137853313
ensemblrs137853313
gopubmedrs137853313
geneviewrs137853313
scholarrs137853313
googlers137853313
pharmgkbrs137853313
gwascentralrs137853313
openSNPrs137853313
23andMers137853313
23andMe allrs137853313
SNP Nexus

SNPshotrs137853313
SNPdbers137853313
MSV3drs137853313
GWAS Ctlgrs137853313
Max Magnitude0
OMIM300017
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137853313(G;G)
Alt rs137853313(G;G)
Reference Rs137853313(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.153599498G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012531.14,