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rs786203988

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786203988(A;C)
Make rs786203988(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position101191948
GeneNALCN
is asnp
is mentioned by
dbSNPrs786203988
ebirs786203988
HLIrs786203988
Exacrs786203988
Varsomers786203988
Maprs786203988
PheGenIrs786203988
hapmaprs786203988
1000 genomesrs786203988
hgdprs786203988
ensemblrs786203988
gopubmedrs786203988
geneviewrs786203988
scholarrs786203988
googlers786203988
pharmgkbrs786203988
gwascentralrs786203988
openSNPrs786203988
23andMers786203988
23andMe allrs786203988
SNP Nexus

SNPshotrs786203988
SNPdbers786203988
MSV3drs786203988
GWAS Ctlgrs786203988
Max Magnitude0
ClinVar
Risk rs786203988(C;C)
Alt rs786203988(C;C)
Reference rs786203988(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.101844299T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167532.4,