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rs878854422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878854422(G;G)
Make rs878854422(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196242157
GeneHECW2
is asnp
is mentioned by
dbSNPrs878854422
dbSNP (old)rs878854422
ClinGenrs878854422
ebirs878854422
HLIrs878854422
Exacrs878854422
Gnomadrs878854422
Varsomers878854422
Maprs878854422
PheGenIrs878854422
Biobankrs878854422
1000 genomesrs878854422
hgdprs878854422
ensemblrs878854422
gopubmedrs878854422
geneviewrs878854422
scholarrs878854422
googlers878854422
pharmgkbrs878854422
gwascentralrs878854422
openSNPrs878854422
23andMers878854422
23andMe allrs878854422
SNP Nexus

SNPshotrs878854422
SNPdbers878854422
MSV3drs878854422
GWAS Ctlgrs878854422
Max Magnitude0
ClinVar
Risk rs878854422(G;G)
Alt rs878854422(G;G)
Reference Rs878854422(T;T)
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.197106881A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415573.1,