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rs878853128

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853128(A;C)
Make rs878853128(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101083801
GeneNALCN
is asnp
is mentioned by
dbSNPrs878853128
ebirs878853128
HLIrs878853128
Exacrs878853128
Varsomers878853128
Maprs878853128
PheGenIrs878853128
hapmaprs878853128
1000 genomesrs878853128
hgdprs878853128
ensemblrs878853128
gopubmedrs878853128
geneviewrs878853128
scholarrs878853128
googlers878853128
pharmgkbrs878853128
gwascentralrs878853128
openSNPrs878853128
23andMers878853128
23andMe allrs878853128
SNP Nexus

SNPshotrs878853128
SNPdbers878853128
MSV3drs878853128
GWAS Ctlgrs878853128
Max Magnitude0
ClinVar
Risk rs878853128(C;C)
Alt rs878853128(C;C)
Reference rs878853128(A;A)
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.101736152T>G
CLNSRC
CLNACC RCV000224193.1,