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rs786203985

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786203985(G;G)
Make rs786203985(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position101292228
GeneNALCN
is asnp
is mentioned by
dbSNPrs786203985
ebirs786203985
HLIrs786203985
Exacrs786203985
Varsomers786203985
Maprs786203985
PheGenIrs786203985
hapmaprs786203985
1000 genomesrs786203985
hgdprs786203985
ensemblrs786203985
gopubmedrs786203985
geneviewrs786203985
scholarrs786203985
googlers786203985
pharmgkbrs786203985
gwascentralrs786203985
openSNPrs786203985
23andMers786203985
23andMe allrs786203985
SNP Nexus

SNPshotrs786203985
SNPdbers786203985
MSV3drs786203985
GWAS Ctlgrs786203985
Max Magnitude0
ClinVar
Risk rs786203985(G;G)
Alt rs786203985(G;G)
Reference rs786203985(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.101944579A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000167529.4,