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rs886039903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039903(A;A)
Make rs886039903(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position192335434
GeneFGF12
is asnp
is mentioned by
dbSNPrs886039903
dbSNP (classic)rs886039903
ClinGenrs886039903
ebirs886039903
HLIrs886039903
Exacrs886039903
Gnomadrs886039903
Varsomers886039903
LitVarrs886039903
Maprs886039903
PheGenIrs886039903
Biobankrs886039903
1000 genomesrs886039903
hgdprs886039903
ensemblrs886039903
geneviewrs886039903
scholarrs886039903
googlers886039903
pharmgkbrs886039903
gwascentralrs886039903
openSNPrs886039903
23andMers886039903
SNPshotrs886039903
SNPdbers886039903
MSV3drs886039903
GWAS Ctlgrs886039903
Max Magnitude0
ClinVar
Risk rs886039903(A;A)
Alt rs886039903(A;A)
Reference Rs886039903(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene FGF12
CLNDBN Epileptic encephalopathy, early infantile, 47
Reversed 1
HGVS NC_000003.11:g.192053223C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000258032.3,