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rs542708170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs542708170(C;T)
Make rs542708170(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13864632
GeneDNAH5
is asnp
is mentioned by
dbSNPrs542708170
dbSNP (classic)rs542708170
ClinGenrs542708170
ebirs542708170
HLIrs542708170
Exacrs542708170
Gnomadrs542708170
Varsomers542708170
LitVarrs542708170
Maprs542708170
PheGenIrs542708170
Biobankrs542708170
1000 genomesrs542708170
hgdprs542708170
ensemblrs542708170
geneviewrs542708170
scholarrs542708170
googlers542708170
pharmgkbrs542708170
gwascentralrs542708170
openSNPrs542708170
23andMers542708170
SNPshotrs542708170
SNPdbers542708170
MSV3drs542708170
GWAS Ctlgrs542708170
Max Magnitude0
ClinVar
Risk rs542708170(T;T)
Alt rs542708170(T;T)
Reference Rs542708170(C;C)
Significance Probable-Pathogenic
Disease not specified Primary ciliary dyskinesia Ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN not specified Primary ciliary dyskinesia Ciliary dyskinesia, primary, 3
Reversed 0
HGVS NC_000005.9:g.13864741C>T
CLNSRC
CLNACC RCV000266533.1, RCV000303721.1, RCV000477841.1,