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rs201943194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201943194(C;T)
Make rs201943194(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position21710596
GeneDNAH11
is asnp
is mentioned by
dbSNPrs201943194
dbSNP (old)rs201943194
ClinGenrs201943194
ebirs201943194
HLIrs201943194
Exacrs201943194
Gnomadrs201943194
Varsomers201943194
Maprs201943194
PheGenIrs201943194
Biobankrs201943194
1000 genomesrs201943194
hgdprs201943194
ensemblrs201943194
gopubmedrs201943194
geneviewrs201943194
scholarrs201943194
googlers201943194
pharmgkbrs201943194
gwascentralrs201943194
openSNPrs201943194
23andMers201943194
23andMe allrs201943194
SNPshotrs201943194
SNPdbers201943194
MSV3drs201943194
GWAS Ctlgrs201943194
Max Magnitude0
ClinVar
Risk rs201943194(T;T)
Alt rs201943194(T;T)
Reference Rs201943194(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia Primary ciliary dyskinesia
Variation info
Gene DNAH11
CLNDBN Ciliary dyskinesia, primary, 7 Primary ciliary dyskinesia
Reversed 0
HGVS NC_000007.13:g.21750214C>T
CLNSRC
CLNACC RCV000289819.1, RCV000461399.1,