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rs1801710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs1801710(A;A)
Make rs1801710(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position77918405
GeneEDNRB
is asnp
is mentioned by
dbSNPrs1801710
dbSNP (classic)rs1801710
ClinGenrs1801710
ebirs1801710
HLIrs1801710
Exacrs1801710
Gnomadrs1801710
Varsomers1801710
LitVarrs1801710
Maprs1801710
PheGenIrs1801710
Biobankrs1801710
1000 genomesrs1801710
hgdprs1801710
ensemblrs1801710
geneviewrs1801710
scholarrs1801710
googlers1801710
pharmgkbrs1801710
gwascentralrs1801710
openSNPrs1801710
23andMers1801710
SNPshotrs1801710
SNPdbers1801710
MSV3drs1801710
GWAS Ctlgrs1801710
GMAF0.004591
Max Magnitude0
OMIM131244
Desc
Variant0005
Relatedalso
ClinVar
Risk rs1801710(A;A)
Alt rs1801710(A;A)
Reference Rs1801710(G;G)
Significance Other
Disease Hirschsprung disease 2 not specified not provided Waardenburg syndrome Hirschsprung Disease
Variation info
Gene EDNRB
CLNDBN Hirschsprung disease 2 not specified not provided Waardenburg syndrome Hirschsprung Disease, Recessive
Reversed 1
HGVS NC_000013.10:g.78492540C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018117.3, RCV000216329.2, RCV000224294.1, RCV000293473.1, RCV000350820.1,