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rs1057519322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519322(C;T)
Make rs1057519322(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position3193404
GeneNCLN
is asnp
is mentioned by
dbSNPrs1057519322
dbSNP (old)rs1057519322
ClinGenrs1057519322
ebirs1057519322
HLIrs1057519322
Exacrs1057519322
Gnomadrs1057519322
Varsomers1057519322
Maprs1057519322
PheGenIrs1057519322
Biobankrs1057519322
1000 genomesrs1057519322
hgdprs1057519322
ensemblrs1057519322
gopubmedrs1057519322
geneviewrs1057519322
scholarrs1057519322
googlers1057519322
pharmgkbrs1057519322
gwascentralrs1057519322
openSNPrs1057519322
23andMers1057519322
23andMe allrs1057519322
SNPshotrs1057519322
SNPdbers1057519322
MSV3drs1057519322
GWAS Ctlgrs1057519322
Max Magnitude0
ClinVar
Risk rs1057519322(T;T)
Alt rs1057519322(T;T)
Reference Rs1057519322(C;C)
Significance Probable-Pathogenic
Disease Hirschsprung disease 1
Variation info
Gene NCLN
CLNDBN Hirschsprung disease 1
Reversed 0
HGVS NC_000019.9:g.3193402C>T
CLNSRC
CLNACC RCV000416337.1,