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rs200708870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200708870(C;T)
Make rs200708870(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position74301064
GeneDNAI2
is asnp
is mentioned by
dbSNPrs200708870
dbSNP (old)rs200708870
ClinGenrs200708870
ebirs200708870
HLIrs200708870
Exacrs200708870
Gnomadrs200708870
Varsomers200708870
LitVarrs200708870
Maprs200708870
PheGenIrs200708870
Biobankrs200708870
1000 genomesrs200708870
hgdprs200708870
ensemblrs200708870
gopubmedrs200708870
geneviewrs200708870
scholarrs200708870
googlers200708870
pharmgkbrs200708870
gwascentralrs200708870
openSNPrs200708870
23andMers200708870
23andMe allrs200708870
SNPshotrs200708870
SNPdbers200708870
MSV3drs200708870
GWAS Ctlgrs200708870
Max Magnitude0
ClinVar
Risk rs200708870(T;T)
Alt rs200708870(T;T)
Reference Rs200708870(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI2
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.72297203C>T
CLNSRC
CLNACC RCV000471217.1,