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rs566755911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs566755911(C;T)
Make rs566755911(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position90040357
GeneGAS8, URAHP
is asnp
is mentioned by
dbSNPrs566755911
dbSNP (classic)rs566755911
ClinGenrs566755911
ebirs566755911
HLIrs566755911
Exacrs566755911
Gnomadrs566755911
Varsomers566755911
LitVarrs566755911
Maprs566755911
PheGenIrs566755911
Biobankrs566755911
1000 genomesrs566755911
hgdprs566755911
ensemblrs566755911
geneviewrs566755911
scholarrs566755911
googlers566755911
pharmgkbrs566755911
gwascentralrs566755911
openSNPrs566755911
23andMers566755911
SNPshotrs566755911
SNPdbers566755911
MSV3drs566755911
GWAS Ctlgrs566755911
Max Magnitude0
ClinVar
Risk rs566755911(T;T)
Alt rs566755911(T;T)
Reference Rs566755911(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene GAS8 URAHP
CLNDBN Ciliary dyskinesia, primary, 33
Reversed 0
HGVS NC_000016.9:g.90106765C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203561.1,