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rs878853132

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853132(G;G)
Make rs878853132(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101229485
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853132
ebirs878853132
HLIrs878853132
Exacrs878853132
Varsomers878853132
Maprs878853132
PheGenIrs878853132
hapmaprs878853132
1000 genomesrs878853132
hgdprs878853132
ensemblrs878853132
gopubmedrs878853132
geneviewrs878853132
scholarrs878853132
googlers878853132
pharmgkbrs878853132
gwascentralrs878853132
openSNPrs878853132
23andMers878853132
23andMe allrs878853132
SNP Nexus

SNPshotrs878853132
SNPdbers878853132
MSV3drs878853132
GWAS Ctlgrs878853132
Max Magnitude0
ClinVar
Risk rs878853132(G;G)
Alt rs878853132(G;G)
Reference rs878853132(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.101881836A>C
CLNSRC
CLNACC RCV000224242.1,