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rs121918300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918300(A;A)
Make rs121918300(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position37888306
GeneNME8
is asnp
is mentioned by
dbSNPrs121918300
dbSNP (classic)rs121918300
ClinGenrs121918300
ebirs121918300
HLIrs121918300
Exacrs121918300
Gnomadrs121918300
Varsomers121918300
LitVarrs121918300
Maprs121918300
PheGenIrs121918300
Biobankrs121918300
1000 genomesrs121918300
hgdprs121918300
ensemblrs121918300
geneviewrs121918300
scholarrs121918300
googlers121918300
pharmgkbrs121918300
gwascentralrs121918300
openSNPrs121918300
23andMers121918300
SNPshotrs121918300
SNPdbers121918300
MSV3drs121918300
GWAS Ctlgrs121918300
Max Magnitude0
OMIM607421
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918300(A;A) rs121918300(C;C)
Alt rs121918300(A;A) rs121918300(C;C)
Reference Rs121918300(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene NME8
CLNDBN Ciliary dyskinesia, primary, 6
Reversed 0
HGVS NC_000007.13:g.37927908T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003412.4,