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rs1057519432

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519432(A;G)
Make rs1057519432(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position101192042
GeneNALCN
is asnp
is mentioned by
dbSNPrs1057519432
dbSNP (old)rs1057519432
ClinGenrs1057519432
ebirs1057519432
HLIrs1057519432
Exacrs1057519432
Gnomadrs1057519432
Varsomers1057519432
Maprs1057519432
PheGenIrs1057519432
Biobankrs1057519432
1000 genomesrs1057519432
hgdprs1057519432
ensemblrs1057519432
gopubmedrs1057519432
geneviewrs1057519432
scholarrs1057519432
googlers1057519432
pharmgkbrs1057519432
gwascentralrs1057519432
openSNPrs1057519432
23andMers1057519432
23andMe allrs1057519432
SNP Nexus

SNPshotrs1057519432
SNPdbers1057519432
MSV3drs1057519432
GWAS Ctlgrs1057519432
Max Magnitude0
ClinVar
Risk rs1057519432(G;G)
Alt rs1057519432(G;G)
Reference Rs1057519432(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.101844393T>C
CLNSRC
CLNACC RCV000416437.1,