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rs878854424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878854424(A;G)
Make rs878854424(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196220113
GeneHECW2
is asnp
is mentioned by
dbSNPrs878854424
dbSNP (old)rs878854424
ClinGenrs878854424
ebirs878854424
HLIrs878854424
Exacrs878854424
Gnomadrs878854424
Varsomers878854424
Maprs878854424
PheGenIrs878854424
Biobankrs878854424
1000 genomesrs878854424
hgdprs878854424
ensemblrs878854424
gopubmedrs878854424
geneviewrs878854424
scholarrs878854424
googlers878854424
pharmgkbrs878854424
gwascentralrs878854424
openSNPrs878854424
23andMers878854424
23andMe allrs878854424
SNP Nexus

SNPshotrs878854424
SNPdbers878854424
MSV3drs878854424
GWAS Ctlgrs878854424
Max Magnitude0
ClinVar
Risk rs878854424(G;G)
Alt rs878854424(G;G)
Reference Rs878854424(A;A)
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.197084837T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415531.1,