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rs1057516040

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516040(A;G)
Make rs1057516040(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position101292052
GeneNALCN
is asnp
is mentioned by
dbSNPrs1057516040
dbSNP (old)rs1057516040
ClinGenrs1057516040
ebirs1057516040
HLIrs1057516040
Exacrs1057516040
Gnomadrs1057516040
Varsomers1057516040
Maprs1057516040
PheGenIrs1057516040
Biobankrs1057516040
1000 genomesrs1057516040
hgdprs1057516040
ensemblrs1057516040
gopubmedrs1057516040
geneviewrs1057516040
scholarrs1057516040
googlers1057516040
pharmgkbrs1057516040
gwascentralrs1057516040
openSNPrs1057516040
23andMers1057516040
23andMe allrs1057516040
SNP Nexus

SNPshotrs1057516040
SNPdbers1057516040
MSV3drs1057516040
GWAS Ctlgrs1057516040
Max Magnitude0
ClinVar
Risk rs1057516040(G;G)
Alt rs1057516040(G;G)
Reference Rs1057516040(A;A)
Significance Probable-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.101944403T>C
CLNSRC
CLNACC RCV000408614.1,