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rs869312873

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312873(A;A)
Make rs869312873(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position101089846
GeneNALCN
is asnp
is mentioned by
dbSNPrs869312873
ebirs869312873
HLIrs869312873
Exacrs869312873
Varsomers869312873
Maprs869312873
PheGenIrs869312873
hapmaprs869312873
1000 genomesrs869312873
hgdprs869312873
ensemblrs869312873
gopubmedrs869312873
geneviewrs869312873
scholarrs869312873
googlers869312873
pharmgkbrs869312873
gwascentralrs869312873
openSNPrs869312873
23andMers869312873
23andMe allrs869312873
SNP Nexus

SNPshotrs869312873
SNPdbers869312873
MSV3drs869312873
GWAS Ctlgrs869312873
Max Magnitude0
ClinVar
Risk rs869312873(A;A)
Alt rs869312873(A;A)
Reference rs869312873(G;G)
Significance Pathogenic
Disease Abnormal pattern of respiration Cachexia Intellectual disability Seizures Strabismus
Variation info
Gene NALCN
CLNDBN Abnormal pattern of respiration Cachexia Intellectual disability, severe Seizures Strabismus
Reversed 1
HGVS NC_000013.10:g.101742197C>T
CLNSRC
CLNACC RCV000210426.1,