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rs754867753

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs754867753(C;T)
Make rs754867753(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80050085
GeneCCDC40
is asnp
is mentioned by
dbSNPrs754867753
ebirs754867753
HLIrs754867753
Exacrs754867753
Varsomers754867753
Maprs754867753
PheGenIrs754867753
hapmaprs754867753
1000 genomesrs754867753
hgdprs754867753
ensemblrs754867753
gopubmedrs754867753
geneviewrs754867753
scholarrs754867753
googlers754867753
pharmgkbrs754867753
gwascentralrs754867753
openSNPrs754867753
23andMers754867753
23andMe allrs754867753
SNP Nexus

SNPshotrs754867753
SNPdbers754867753
MSV3drs754867753
GWAS Ctlgrs754867753
Max Magnitude0
ClinVar
Risk rs754867753(T;T)
Alt rs754867753(T;T)
Reference rs754867753(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.78023884C>T
CLNSRC
CLNACC RCV000198649.2,