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rs748618094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs748618094(A;A)
Make rs748618094(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position13841058
GeneDNAH5
is asnp
is mentioned by
dbSNPrs748618094
dbSNP (classic)rs748618094
ClinGenrs748618094
ebirs748618094
HLIrs748618094
Exacrs748618094
Gnomadrs748618094
Varsomers748618094
LitVarrs748618094
Maprs748618094
PheGenIrs748618094
Biobankrs748618094
1000 genomesrs748618094
hgdprs748618094
ensemblrs748618094
geneviewrs748618094
scholarrs748618094
googlers748618094
pharmgkbrs748618094
gwascentralrs748618094
openSNPrs748618094
23andMers748618094
SNPshotrs748618094
SNPdbers748618094
MSV3drs748618094
GWAS Ctlgrs748618094
Max Magnitude0
ClinVar
Risk rs748618094(A;A)
Alt rs748618094(A;A)
Reference Rs748618094(T;T)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13841167T>A
CLNSRC
CLNACC RCV000203745.1,