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rs786201003

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201003(A;A)
Make rs786201003(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position101083752
GeneNALCN
is asnp
is mentioned by
dbSNPrs786201003
ebirs786201003
HLIrs786201003
Exacrs786201003
Varsomers786201003
Maprs786201003
PheGenIrs786201003
hapmaprs786201003
1000 genomesrs786201003
hgdprs786201003
ensemblrs786201003
gopubmedrs786201003
geneviewrs786201003
scholarrs786201003
googlers786201003
pharmgkbrs786201003
gwascentralrs786201003
openSNPrs786201003
23andMers786201003
23andMe allrs786201003
SNP Nexus

SNPshotrs786201003
SNPdbers786201003
MSV3drs786201003
GWAS Ctlgrs786201003
Max Magnitude0
ClinVar
Risk rs786201003(A;A)
Alt rs786201003(A;A)
Reference rs786201003(G;G)
Significance Pathogenic
Disease Intellectual disability with episodic ataxia and congenital arthrogryposis Congenital contractures of the limbs and face
Variation info
Gene NALCN
CLNDBN Intellectual disability with episodic ataxia and congenital arthrogryposis Congenital contractures of the limbs and face, hypotonia, and developmental delay
Reversed 1
HGVS NC_000013.10:g.101736103C>T
CLNSRC
CLNACC RCV000167764.1, RCV000224736.1,