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rs5352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 Hirschsprung disease?
(A;G) 2.2 probably Hirschsprung disease carrier
(G;G) 0 common
ReferenceGRCh38 38.1/142
Chromosome13
Position77901095
GeneEDNRB, EDNRB-AS1
is asnp
is mentioned by
dbSNPrs5352
ebirs5352
HLIrs5352
Exacrs5352
Varsomers5352
Maprs5352
PheGenIrs5352
hapmaprs5352
1000 genomesrs5352
hgdprs5352
ensemblrs5352
gopubmedrs5352
geneviewrs5352
scholarrs5352
googlers5352
pharmgkbrs5352
gwascentralrs5352
openSNPrs5352
23andMers5352
23andMe allrs5352
SNP Nexus

SNPshotrs5352
SNPdbers5352
MSV3drs5352
GWAS Ctlgrs5352
GMAF0.006887
Max Magnitude3.5
? (A;A) (A;G) (G;G) 28
OMIM131244
DescHIRSCHSPRUNG DISEASE 2
Variant0006
Relatedalso
Neighborrs5351
Distance83


ClinVar
Risk rs5352(A;A)
Alt rs5352(A;A)
Reference rs5352(G;G)
Significance Other
Disease Hirschsprung disease 2 not specified
Variation info
Gene EDNRB EDNRB-AS1
CLNDBN Hirschsprung disease 2 not specified
Reversed 1
HGVS NC_000013.10:g.78475230C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018118.2, RCV000222856.1,



GET Evidence
EDNRB-S305N
aa_change Ser305Asn
aa_change_short S305N
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0103198
summary