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rs878854416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854416(A;A)
Make rs878854416(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position196242162
GeneHECW2
is asnp
is mentioned by
dbSNPrs878854416
dbSNP (old)rs878854416
ClinGenrs878854416
ebirs878854416
HLIrs878854416
Exacrs878854416
Gnomadrs878854416
Varsomers878854416
Maprs878854416
PheGenIrs878854416
Biobankrs878854416
1000 genomesrs878854416
hgdprs878854416
ensemblrs878854416
gopubmedrs878854416
geneviewrs878854416
scholarrs878854416
googlers878854416
pharmgkbrs878854416
gwascentralrs878854416
openSNPrs878854416
23andMers878854416
23andMe allrs878854416
SNP Nexus

SNPshotrs878854416
SNPdbers878854416
MSV3drs878854416
GWAS Ctlgrs878854416
Max Magnitude0
ClinVar
Risk rs878854416(A;A)
Alt rs878854416(A;A)
Reference Rs878854416(G;G)
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.197106886C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415526.1,