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rs144711161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144711161(A;A)
Make rs144711161(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position38899907
GeneDNAH8
is asnp
is mentioned by
dbSNPrs144711161
dbSNP (classic)rs144711161
ClinGenrs144711161
ebirs144711161
HLIrs144711161
Exacrs144711161
Gnomadrs144711161
Varsomers144711161
LitVarrs144711161
Maprs144711161
PheGenIrs144711161
Biobankrs144711161
1000 genomesrs144711161
hgdprs144711161
ensemblrs144711161
geneviewrs144711161
scholarrs144711161
googlers144711161
pharmgkbrs144711161
gwascentralrs144711161
openSNPrs144711161
23andMers144711161
SNPshotrs144711161
SNPdbers144711161
MSV3drs144711161
GWAS Ctlgrs144711161
Max Magnitude0
ClinVar
Risk rs144711161(A;A)
Alt rs144711161(A;A)
Reference Rs144711161(G;G)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH8
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000006.11:g.38867683G>A
CLNSRC
CLNACC RCV000228661.1,