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rs1057518934

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518934(-;-)
Make rs1057518934(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position28211095
GeneHERC2
is asnp
is mentioned by
dbSNPrs1057518934
dbSNP (old)rs1057518934
ClinGenrs1057518934
ebirs1057518934
HLIrs1057518934
Exacrs1057518934
Gnomadrs1057518934
Varsomers1057518934
Maprs1057518934
PheGenIrs1057518934
Biobankrs1057518934
1000 genomesrs1057518934
hgdprs1057518934
ensemblrs1057518934
gopubmedrs1057518934
geneviewrs1057518934
scholarrs1057518934
googlers1057518934
pharmgkbrs1057518934
gwascentralrs1057518934
openSNPrs1057518934
23andMers1057518934
23andMe allrs1057518934
SNPshotrs1057518934
SNPdbers1057518934
MSV3drs1057518934
GWAS Ctlgrs1057518934
Max Magnitude0
ClinVar
Risk rs1057518934(-;-)
Alt rs1057518934(-;-)
Reference Rs1057518934(C;C)
Significance Pathogenic
Disease Aplasia/Hypoplasia of the cerebellum Global brain atrophy Hypoplasia of the corpus callosum Intellectual disability Motor delay Neonatal hypotonia Optic nerve hypoplasia Paraparesis
Variation info
Gene HERC2
CLNDBN Aplasia/Hypoplasia of the cerebellum Global brain atrophy Hypoplasia of the corpus callosum Intellectual disability, severe Motor delay Neonatal hypotonia Optic nerve hypoplasia Paraparesis
Reversed 1
HGVS NC_000015.9:g.28456241delG
CLNSRC
CLNACC RCV000414953.1,