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rs878853129

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853129(C;C)
Make rs878853129(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101103179
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853129
ebirs878853129
HLIrs878853129
Exacrs878853129
Varsomers878853129
Maprs878853129
PheGenIrs878853129
hapmaprs878853129
1000 genomesrs878853129
hgdprs878853129
ensemblrs878853129
gopubmedrs878853129
geneviewrs878853129
scholarrs878853129
googlers878853129
pharmgkbrs878853129
gwascentralrs878853129
openSNPrs878853129
23andMers878853129
23andMe allrs878853129
SNP Nexus

SNPshotrs878853129
SNPdbers878853129
MSV3drs878853129
GWAS Ctlgrs878853129
Max Magnitude0
ClinVar
Risk rs878853129(C;C)
Alt rs878853129(C;C)
Reference rs878853129(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.101755530A>G
CLNSRC
CLNACC RCV000224534.1,