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rs878853133

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853133(A;A)
Make rs878853133(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101292058
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853133
ebirs878853133
HLIrs878853133
Exacrs878853133
Varsomers878853133
Maprs878853133
PheGenIrs878853133
hapmaprs878853133
1000 genomesrs878853133
hgdprs878853133
ensemblrs878853133
gopubmedrs878853133
geneviewrs878853133
scholarrs878853133
googlers878853133
pharmgkbrs878853133
gwascentralrs878853133
openSNPrs878853133
23andMers878853133
23andMe allrs878853133
SNP Nexus

SNPshotrs878853133
SNPdbers878853133
MSV3drs878853133
GWAS Ctlgrs878853133
Max Magnitude0
ClinVar
Risk rs878853133(A;A)
Alt rs878853133(A;A)
Reference rs878853133(G;G)
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.101944409C>T
CLNSRC
CLNACC RCV000224921.1,