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rs370706991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370706991(G;T)
Make rs370706991(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80089763
GeneCCDC40
is asnp
is mentioned by
dbSNPrs370706991
dbSNP (classic)rs370706991
ClinGenrs370706991
ebirs370706991
HLIrs370706991
Exacrs370706991
Gnomadrs370706991
Varsomers370706991
LitVarrs370706991
Maprs370706991
PheGenIrs370706991
Biobankrs370706991
1000 genomesrs370706991
hgdprs370706991
ensemblrs370706991
geneviewrs370706991
scholarrs370706991
googlers370706991
pharmgkbrs370706991
gwascentralrs370706991
openSNPrs370706991
23andMers370706991
SNPshotrs370706991
SNPdbers370706991
MSV3drs370706991
GWAS Ctlgrs370706991
Max Magnitude0
ClinVar
Risk rs370706991(T;T)
Alt rs370706991(T;T)
Reference Rs370706991(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.78063562G>T
CLNSRC
CLNACC RCV000465864.1,