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rs137852998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852998(C;T)
Make rs137852998(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position74299780
GeneDNAI2
is asnp
is mentioned by
dbSNPrs137852998
ebirs137852998
HLIrs137852998
Exacrs137852998
Varsomers137852998
Maprs137852998
PheGenIrs137852998
hapmaprs137852998
1000 genomesrs137852998
hgdprs137852998
ensemblrs137852998
gopubmedrs137852998
geneviewrs137852998
scholarrs137852998
googlers137852998
pharmgkbrs137852998
gwascentralrs137852998
openSNPrs137852998
23andMers137852998
23andMe allrs137852998
SNP Nexus

SNPshotrs137852998
SNPdbers137852998
MSV3drs137852998
GWAS Ctlgrs137852998
Max Magnitude0
OMIM605483
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852998(G,T;G,T)
Alt rs137852998(G,T;G,T)
Reference rs137852998(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene DNAI2
CLNDBN Ciliary dyskinesia, primary, 9
Reversed 0
HGVS NC_000017.10:g.72295919C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005243.3,