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rs878853134

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853134(A;A)
Make rs878853134(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101292232
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853134
ebirs878853134
HLIrs878853134
Exacrs878853134
Varsomers878853134
Maprs878853134
PheGenIrs878853134
hapmaprs878853134
1000 genomesrs878853134
hgdprs878853134
ensemblrs878853134
gopubmedrs878853134
geneviewrs878853134
scholarrs878853134
googlers878853134
pharmgkbrs878853134
gwascentralrs878853134
openSNPrs878853134
23andMers878853134
23andMe allrs878853134
SNP Nexus

SNPshotrs878853134
SNPdbers878853134
MSV3drs878853134
GWAS Ctlgrs878853134
Max Magnitude0
ClinVar
Risk rs878853134(A;A)
Alt rs878853134(A;A)
Reference rs878853134(C;C)
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.101944583G>T
CLNSRC
CLNACC RCV000224612.1,