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rs869320683

From SNPedia

Orientationplus
Geno Mag Summary
(AGTA;AGTA) 0 common in clinvar
Make rs869320683(-;-)
Make rs869320683(-;AAGT)
Make rs869320683(AAGT;AAGT)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position116623005
GeneRSPH4A
is asnp
is mentioned by
dbSNPrs869320683
ebirs869320683
HLIrs869320683
Exacrs869320683
Varsomers869320683
Maprs869320683
PheGenIrs869320683
hapmaprs869320683
1000 genomesrs869320683
hgdprs869320683
ensemblrs869320683
gopubmedrs869320683
geneviewrs869320683
scholarrs869320683
googlers869320683
pharmgkbrs869320683
gwascentralrs869320683
openSNPrs869320683
23andMers869320683
23andMe allrs869320683
SNP Nexus

SNPshotrs869320683
SNPdbers869320683
MSV3drs869320683
GWAS Ctlgrs869320683
Max Magnitude0
ClinVar
Risk rs869320683(;)
Alt rs869320683(;)
Reference rs869320683(AGTA;AGTA)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene RSPH4A
CLNDBN Ciliary dyskinesia, primary, 11 Kartagener syndrome
Reversed 0
HGVS NC_000006.11:g.116944168_116944171delAAGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000074451.3, RCV000190913.1,