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rs869025188

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025188(-;-)
Make rs869025188(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101229530
GeneNALCN
is asnp
is mentioned by
dbSNPrs869025188
ebirs869025188
HLIrs869025188
Exacrs869025188
Varsomers869025188
Maprs869025188
PheGenIrs869025188
hapmaprs869025188
1000 genomesrs869025188
hgdprs869025188
ensemblrs869025188
gopubmedrs869025188
geneviewrs869025188
scholarrs869025188
googlers869025188
pharmgkbrs869025188
gwascentralrs869025188
openSNPrs869025188
23andMers869025188
23andMe allrs869025188
SNP Nexus

SNPshotrs869025188
SNPdbers869025188
MSV3drs869025188
GWAS Ctlgrs869025188
Max Magnitude0
ClinVar
Risk rs869025188(;)
Alt rs869025188(;)
Reference rs869025188(T;T)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene NALCN
CLNDBN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Reversed 1
HGVS NC_000013.10:g.101881881delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000074369.2,