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rs878853130

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853130(C;C)
Make rs878853130(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101103212
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853130
ebirs878853130
HLIrs878853130
Exacrs878853130
Varsomers878853130
Maprs878853130
PheGenIrs878853130
hapmaprs878853130
1000 genomesrs878853130
hgdprs878853130
ensemblrs878853130
gopubmedrs878853130
geneviewrs878853130
scholarrs878853130
googlers878853130
pharmgkbrs878853130
gwascentralrs878853130
openSNPrs878853130
23andMers878853130
23andMe allrs878853130
SNP Nexus

SNPshotrs878853130
SNPdbers878853130
MSV3drs878853130
GWAS Ctlgrs878853130
Max Magnitude0
ClinVar
Risk rs878853130(C;C)
Alt rs878853130(C;C)
Reference rs878853130(T;T)
Significance Pathogenic
Disease Congenital contractures of the limbs and face
Variation info
Gene NALCN
CLNDBN Congenital contractures of the limbs and face, hypotonia, and developmental delay
Reversed 1
HGVS NC_000013.10:g.101755563A>G
CLNSRC
CLNACC RCV000224757.1,