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rs878853131

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853131(A;A)
Make rs878853131(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101229481
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853131
ebirs878853131
HLIrs878853131
Exacrs878853131
Varsomers878853131
Maprs878853131
PheGenIrs878853131
hapmaprs878853131
1000 genomesrs878853131
hgdprs878853131
ensemblrs878853131
gopubmedrs878853131
geneviewrs878853131
scholarrs878853131
googlers878853131
pharmgkbrs878853131
gwascentralrs878853131
openSNPrs878853131
23andMers878853131
23andMe allrs878853131
SNP Nexus

SNPshotrs878853131
SNPdbers878853131
MSV3drs878853131
GWAS Ctlgrs878853131
Max Magnitude0
ClinVar
Risk rs878853131(A;A)
Alt rs878853131(A;A)
Reference rs878853131(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.101881832G>T
CLNSRC
CLNACC RCV000224900.1,