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rs755596256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs755596256(A;A)
Make rs755596256(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position13814801
GeneDNAH5
is asnp
is mentioned by
dbSNPrs755596256
dbSNP (classic)rs755596256
ClinGenrs755596256
ebirs755596256
HLIrs755596256
Exacrs755596256
Gnomadrs755596256
Varsomers755596256
LitVarrs755596256
Maprs755596256
PheGenIrs755596256
Biobankrs755596256
1000 genomesrs755596256
hgdprs755596256
ensemblrs755596256
geneviewrs755596256
scholarrs755596256
googlers755596256
pharmgkbrs755596256
gwascentralrs755596256
openSNPrs755596256
23andMers755596256
SNPshotrs755596256
SNPdbers755596256
MSV3drs755596256
GWAS Ctlgrs755596256
Max Magnitude0
ClinVar
Risk rs755596256(A;A) rs755596256(T;T)
Alt rs755596256(A;A) rs755596256(T;T)
Reference Rs755596256(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13814910C>T
CLNSRC
CLNACC RCV000231665.1,