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rs878853127

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853127(G;G)
Make rs878853127(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101068026
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853127
ebirs878853127
HLIrs878853127
Exacrs878853127
Varsomers878853127
Maprs878853127
PheGenIrs878853127
hapmaprs878853127
1000 genomesrs878853127
hgdprs878853127
ensemblrs878853127
gopubmedrs878853127
geneviewrs878853127
scholarrs878853127
googlers878853127
pharmgkbrs878853127
gwascentralrs878853127
openSNPrs878853127
23andMers878853127
23andMe allrs878853127
SNP Nexus

SNPshotrs878853127
SNPdbers878853127
MSV3drs878853127
GWAS Ctlgrs878853127
Max Magnitude0
ClinVar
Risk rs878853127(G;G)
Alt rs878853127(G;G)
Reference rs878853127(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.101720378A>C
CLNSRC
CLNACC RCV000224385.1,