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rs878854417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878854417(C;T)
Make rs878854417(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196225800
GeneHECW2
is asnp
is mentioned by
dbSNPrs878854417
dbSNP (old)rs878854417
ClinGenrs878854417
ebirs878854417
HLIrs878854417
Exacrs878854417
Gnomadrs878854417
Varsomers878854417
Maprs878854417
PheGenIrs878854417
Biobankrs878854417
1000 genomesrs878854417
hgdprs878854417
ensemblrs878854417
gopubmedrs878854417
geneviewrs878854417
scholarrs878854417
googlers878854417
pharmgkbrs878854417
gwascentralrs878854417
openSNPrs878854417
23andMers878854417
23andMe allrs878854417
SNP Nexus

SNPshotrs878854417
SNPdbers878854417
MSV3drs878854417
GWAS Ctlgrs878854417
Max Magnitude0
ClinVar
Risk rs878854417(T;T)
Alt rs878854417(T;T)
Reference Rs878854417(C;C)
Significance Pathogenic
Disease Neurodevelopmental disorder with hypotonia
Variation info
Gene HECW2
CLNDBN Neurodevelopmental disorder with hypotonia, seizures, and absent language
Reversed 1
HGVS NC_000002.11:g.197090524G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415612.1,