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rs587777068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777068(A;A)
Make rs587777068(A;C)
ReferenceGRCh38 38.1/142
Chromosome13
Position101081552
GeneNALCN
is asnp
is mentioned by
dbSNPrs587777068
ebirs587777068
HLIrs587777068
Exacrs587777068
Varsomers587777068
Maprs587777068
PheGenIrs587777068
hapmaprs587777068
1000 genomesrs587777068
hgdprs587777068
ensemblrs587777068
gopubmedrs587777068
geneviewrs587777068
scholarrs587777068
googlers587777068
pharmgkbrs587777068
gwascentralrs587777068
openSNPrs587777068
23andMers587777068
23andMe allrs587777068
SNP Nexus

SNPshotrs587777068
SNPdbers587777068
MSV3drs587777068
GWAS Ctlgrs587777068
Max Magnitude0
ClinVar
Risk rs587777068(A;A)
Alt rs587777068(A;A)
Reference rs587777068(C;C)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene NALCN
CLNDBN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Reversed 0
HGVS NC_000013.10:g.101733903C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074370.3,