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rs201740530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201740530(C;T)
Make rs201740530(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position100233436
GeneSPAG1
is asnp
is mentioned by
dbSNPrs201740530
ebirs201740530
HLIrs201740530
Exacrs201740530
Varsomers201740530
Maprs201740530
PheGenIrs201740530
hapmaprs201740530
1000 genomesrs201740530
hgdprs201740530
ensemblrs201740530
gopubmedrs201740530
geneviewrs201740530
scholarrs201740530
googlers201740530
pharmgkbrs201740530
gwascentralrs201740530
openSNPrs201740530
23andMers201740530
23andMe allrs201740530
SNP Nexus

SNPshotrs201740530
SNPdbers201740530
MSV3drs201740530
GWAS Ctlgrs201740530
Max Magnitude0
ClinVar
Risk rs201740530(T;T)
Alt rs201740530(T;T)
Reference rs201740530(C;C)
Significance Pathogenic
Disease Epilepsy Kartagener syndrome
Variation info
Gene SPAG1
CLNDBN Epilepsy, nocturnal frontal lobe, 5 Kartagener syndrome
Reversed 0
HGVS NC_000008.10:g.101245664C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074366.3, RCV000190929.1,