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rs1057519433

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519433(C;C)
Make rs1057519433(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position101292072
GeneNALCN
is asnp
is mentioned by
dbSNPrs1057519433
dbSNP (old)rs1057519433
ClinGenrs1057519433
ebirs1057519433
HLIrs1057519433
Exacrs1057519433
Gnomadrs1057519433
Varsomers1057519433
Maprs1057519433
PheGenIrs1057519433
Biobankrs1057519433
1000 genomesrs1057519433
hgdprs1057519433
ensemblrs1057519433
gopubmedrs1057519433
geneviewrs1057519433
scholarrs1057519433
googlers1057519433
pharmgkbrs1057519433
gwascentralrs1057519433
openSNPrs1057519433
23andMers1057519433
23andMe allrs1057519433
SNPshotrs1057519433
SNPdbers1057519433
MSV3drs1057519433
GWAS Ctlgrs1057519433
Max Magnitude0
ClinVar
Risk rs1057519433(C;C)
Alt rs1057519433(C;C)
Reference Rs1057519433(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.101944423A>G
CLNSRC
CLNACC RCV000416463.1,