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rs786203984

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786203984(A;C)
Make rs786203984(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position101376814
GeneNALCN
is asnp
is mentioned by
dbSNPrs786203984
ebirs786203984
HLIrs786203984
Exacrs786203984
Varsomers786203984
Maprs786203984
PheGenIrs786203984
hapmaprs786203984
1000 genomesrs786203984
hgdprs786203984
ensemblrs786203984
gopubmedrs786203984
geneviewrs786203984
scholarrs786203984
googlers786203984
pharmgkbrs786203984
gwascentralrs786203984
openSNPrs786203984
23andMers786203984
23andMe allrs786203984
SNP Nexus

SNPshotrs786203984
SNPdbers786203984
MSV3drs786203984
GWAS Ctlgrs786203984
Max Magnitude0
ClinVar
Risk rs786203984(C;C)
Alt rs786203984(C;C)
Reference rs786203984(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.102029165T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167528.4,