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rs118204032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204032(C;T)
Make rs118204032(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position28738721
GeneNEK8
is asnp
is mentioned by
dbSNPrs118204032
ebirs118204032
HLIrs118204032
Exacrs118204032
Varsomers118204032
Maprs118204032
PheGenIrs118204032
hapmaprs118204032
1000 genomesrs118204032
hgdprs118204032
ensemblrs118204032
gopubmedrs118204032
geneviewrs118204032
scholarrs118204032
googlers118204032
pharmgkbrs118204032
gwascentralrs118204032
openSNPrs118204032
23andMers118204032
23andMe allrs118204032
SNP Nexus

SNPshotrs118204032
SNPdbers118204032
MSV3drs118204032
GWAS Ctlgrs118204032
Max Magnitude0
OMIM609799
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204032(T;T)
Alt rs118204032(T;T)
Reference rs118204032(C;C)
Significance Pathogenic
Disease Nephronophthisis 9
Variation info
Gene NEK8
CLNDBN Nephronophthisis 9
Reversed 0
HGVS NC_000017.10:g.27065739C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001553.3,