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rs786203987

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786203987(C;C)
Make rs786203987(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position101229493
GeneNALCN
is asnp
is mentioned by
dbSNPrs786203987
ebirs786203987
HLIrs786203987
Exacrs786203987
Varsomers786203987
Maprs786203987
PheGenIrs786203987
hapmaprs786203987
1000 genomesrs786203987
hgdprs786203987
ensemblrs786203987
gopubmedrs786203987
geneviewrs786203987
scholarrs786203987
googlers786203987
pharmgkbrs786203987
gwascentralrs786203987
openSNPrs786203987
23andMers786203987
23andMe allrs786203987
SNP Nexus

SNPshotrs786203987
SNPdbers786203987
MSV3drs786203987
GWAS Ctlgrs786203987
Max Magnitude0
ClinVar
Risk rs786203987(C;C)
Alt rs786203987(C;C)
Reference rs786203987(T;T)
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.101881844A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167531.4,