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rs587777038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777038(A;A)
Make rs587777038(A;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position101144812
GeneNALCN
is asnp
is mentioned by
dbSNPrs587777038
ebirs587777038
HLIrs587777038
Exacrs587777038
Varsomers587777038
Maprs587777038
PheGenIrs587777038
hapmaprs587777038
1000 genomesrs587777038
hgdprs587777038
ensemblrs587777038
gopubmedrs587777038
geneviewrs587777038
scholarrs587777038
googlers587777038
pharmgkbrs587777038
gwascentralrs587777038
openSNPrs587777038
23andMers587777038
23andMe allrs587777038
SNP Nexus

SNPshotrs587777038
SNPdbers587777038
MSV3drs587777038
GWAS Ctlgrs587777038
Max Magnitude0
ClinVar
Risk rs587777038(A;A)
Alt rs587777038(A;A)
Reference rs587777038(G;G)
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.101797163G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055644.4,