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rs786203986

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786203986(C;T)
Make rs786203986(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position101176371
GeneNALCN
is asnp
is mentioned by
dbSNPrs786203986
ebirs786203986
HLIrs786203986
Exacrs786203986
Varsomers786203986
Maprs786203986
PheGenIrs786203986
hapmaprs786203986
1000 genomesrs786203986
hgdprs786203986
ensemblrs786203986
gopubmedrs786203986
geneviewrs786203986
scholarrs786203986
googlers786203986
pharmgkbrs786203986
gwascentralrs786203986
openSNPrs786203986
23andMers786203986
23andMe allrs786203986
SNP Nexus

SNPshotrs786203986
SNPdbers786203986
MSV3drs786203986
GWAS Ctlgrs786203986
Max Magnitude0
ClinVar
Risk rs786203986(T;T)
Alt rs786203986(T;T)
Reference rs786203986(C;C)
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.101828722G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167530.4,