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rs374703898

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374703898(A;A)
Make rs374703898(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67111983
GeneCSPP1
is asnp
is mentioned by
dbSNPrs374703898
ebirs374703898
HLIrs374703898
Exacrs374703898
Varsomers374703898
Maprs374703898
PheGenIrs374703898
hapmaprs374703898
1000 genomesrs374703898
hgdprs374703898
ensemblrs374703898
gopubmedrs374703898
geneviewrs374703898
scholarrs374703898
googlers374703898
pharmgkbrs374703898
gwascentralrs374703898
openSNPrs374703898
23andMers374703898
23andMe allrs374703898
SNP Nexus

SNPshotrs374703898
SNPdbers374703898
MSV3drs374703898
GWAS Ctlgrs374703898
Max Magnitude0
ClinVar
Risk rs374703898(A,T;A,T)
Alt rs374703898(A,T;A,T)
Reference rs374703898(C;C)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68024218C>T
CLNSRC
CLNACC RCV000201690.1,