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rs3026906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs3026906(C;T)
Make rs3026906(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position21220008
GeneECE1
is asnp
is mentioned by
dbSNPrs3026906
ebirs3026906
HLIrs3026906
Exacrs3026906
Varsomers3026906
Maprs3026906
PheGenIrs3026906
hapmaprs3026906
1000 genomesrs3026906
hgdprs3026906
ensemblrs3026906
gopubmedrs3026906
geneviewrs3026906
scholarrs3026906
googlers3026906
pharmgkbrs3026906
gwascentralrs3026906
openSNPrs3026906
23andMers3026906
23andMe allrs3026906
SNP Nexus

SNPshotrs3026906
SNPdbers3026906
MSV3drs3026906
GWAS Ctlgrs3026906
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM600423
Desc
Variant0001
Relatedalso


ClinVar
Risk rs3026906(T;T)
Alt rs3026906(T;T)
Reference rs3026906(C;C)
Significance Pathogenic
Disease Hirschsprung disease
Variation info
Gene ECE1
CLNDBN Hirschsprung disease, cardiac defects, and autonomic dysfunction
Reversed 1
HGVS NC_000001.10:g.21546501G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009704.4,