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rs1057516198

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516198(C;T)
Make rs1057516198(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154359008
GeneFLNA
is asnp
is mentioned by
dbSNPrs1057516198
dbSNP (old)rs1057516198
ClinGenrs1057516198
ebirs1057516198
HLIrs1057516198
Exacrs1057516198
Gnomadrs1057516198
Varsomers1057516198
Maprs1057516198
PheGenIrs1057516198
Biobankrs1057516198
1000 genomesrs1057516198
hgdprs1057516198
ensemblrs1057516198
gopubmedrs1057516198
geneviewrs1057516198
scholarrs1057516198
googlers1057516198
pharmgkbrs1057516198
gwascentralrs1057516198
openSNPrs1057516198
23andMers1057516198
23andMe allrs1057516198
SNPshotrs1057516198
SNPdbers1057516198
MSV3drs1057516198
GWAS Ctlgrs1057516198
Max Magnitude0
ClinVar
Risk rs1057516198(T;T)
Alt rs1057516198(T;T)
Reference Rs1057516198(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.153587376G>A
CLNSRC
CLNACC RCV000408810.1,