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rs375113643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375113643(C;T)
Make rs375113643(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position67095440
GeneCSPP1
is asnp
is mentioned by
dbSNPrs375113643
ebirs375113643
HLIrs375113643
Exacrs375113643
Varsomers375113643
Maprs375113643
PheGenIrs375113643
hapmaprs375113643
1000 genomesrs375113643
hgdprs375113643
ensemblrs375113643
gopubmedrs375113643
geneviewrs375113643
scholarrs375113643
googlers375113643
pharmgkbrs375113643
gwascentralrs375113643
openSNPrs375113643
23andMers375113643
23andMe allrs375113643
SNP Nexus

SNPshotrs375113643
SNPdbers375113643
MSV3drs375113643
GWAS Ctlgrs375113643
Max Magnitude0
ClinVar
Risk rs375113643(T;T)
Alt rs375113643(T;T)
Reference rs375113643(C;C)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68007675C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087072.5,