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rs148891849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148891849(C;C)
Make rs148891849(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position13841895
GeneDNAH5
is asnp
is mentioned by
dbSNPrs148891849
dbSNP (classic)rs148891849
ClinGenrs148891849
ebirs148891849
HLIrs148891849
Exacrs148891849
Gnomadrs148891849
Varsomers148891849
LitVarrs148891849
Maprs148891849
PheGenIrs148891849
Biobankrs148891849
1000 genomesrs148891849
hgdprs148891849
ensemblrs148891849
geneviewrs148891849
scholarrs148891849
googlers148891849
pharmgkbrs148891849
gwascentralrs148891849
openSNPrs148891849
23andMers148891849
SNPshotrs148891849
SNPdbers148891849
MSV3drs148891849
GWAS Ctlgrs148891849
Max Magnitude0
ClinVar
Risk rs148891849(A;A) rs148891849(C;C)
Alt rs148891849(A;A) rs148891849(C;C)
Reference Rs148891849(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia not specified
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia not specified
Reversed 0
HGVS NC_000005.9:g.13842004G>A; NC_000005.9:g.13842004G>C
CLNSRC
CLNACC RCV000204721.1, RCV000242807.1, RCV000468797.1,