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rs1057518928

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518928(C;T)
Make rs1057518928(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position23665471
GeneSOX5
is asnp
is mentioned by
dbSNPrs1057518928
dbSNP (old)rs1057518928
ClinGenrs1057518928
ebirs1057518928
HLIrs1057518928
Exacrs1057518928
Gnomadrs1057518928
Varsomers1057518928
Maprs1057518928
PheGenIrs1057518928
Biobankrs1057518928
1000 genomesrs1057518928
hgdprs1057518928
ensemblrs1057518928
gopubmedrs1057518928
geneviewrs1057518928
scholarrs1057518928
googlers1057518928
pharmgkbrs1057518928
gwascentralrs1057518928
openSNPrs1057518928
23andMers1057518928
23andMe allrs1057518928
SNPshotrs1057518928
SNPdbers1057518928
MSV3drs1057518928
GWAS Ctlgrs1057518928
Max Magnitude0
ClinVar
Risk rs1057518928(T;T)
Alt rs1057518928(T;T)
Reference Rs1057518928(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy Generalized hypotonia Severe global developmental delay
Variation info
Gene SOX5
CLNDBN Epileptic encephalopathy Generalized hypotonia Severe global developmental delay
Reversed 1
HGVS NC_000012.11:g.23818405G>A
CLNSRC
CLNACC RCV000414883.1,