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rs1057519323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519323(A;G)
Make rs1057519323(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position3676355
GeneNUP98
is asnp
is mentioned by
dbSNPrs1057519323
dbSNP (old)rs1057519323
ClinGenrs1057519323
ebirs1057519323
HLIrs1057519323
Exacrs1057519323
Gnomadrs1057519323
Varsomers1057519323
LitVarrs1057519323
Maprs1057519323
PheGenIrs1057519323
Biobankrs1057519323
1000 genomesrs1057519323
hgdprs1057519323
ensemblrs1057519323
gopubmedrs1057519323
geneviewrs1057519323
scholarrs1057519323
googlers1057519323
pharmgkbrs1057519323
gwascentralrs1057519323
openSNPrs1057519323
23andMers1057519323
23andMe allrs1057519323
SNPshotrs1057519323
SNPdbers1057519323
MSV3drs1057519323
GWAS Ctlgrs1057519323
Max Magnitude0
ClinVar
Risk rs1057519323(G;G)
Alt rs1057519323(G;G)
Reference Rs1057519323(A;A)
Significance Probable-Pathogenic
Disease Hirschsprung disease 1
Variation info
Gene NUP98
CLNDBN Hirschsprung disease 1
Reversed 1
HGVS NC_000011.9:g.3697585T>C
CLNSRC
CLNACC RCV000416348.1,