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rs750708201

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs750708201(A;G)
Make rs750708201(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position80050062
GeneCCDC40
is asnp
is mentioned by
dbSNPrs750708201
ebirs750708201
HLIrs750708201
Exacrs750708201
Varsomers750708201
Maprs750708201
PheGenIrs750708201
hapmaprs750708201
1000 genomesrs750708201
hgdprs750708201
ensemblrs750708201
gopubmedrs750708201
geneviewrs750708201
scholarrs750708201
googlers750708201
pharmgkbrs750708201
gwascentralrs750708201
openSNPrs750708201
23andMers750708201
23andMe allrs750708201
SNP Nexus

SNPshotrs750708201
SNPdbers750708201
MSV3drs750708201
GWAS Ctlgrs750708201
Max Magnitude0
ClinVar
Risk rs750708201(G;G)
Alt rs750708201(G;G)
Reference rs750708201(A;A)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.78023861A>G
CLNSRC
CLNACC RCV000221299.1,