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rs863225196

From SNPedia

Merged intors587777144
Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs863225196(-;-)
Make rs863225196(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67086061
GeneCSPP1
is asnp
is mentioned by
dbSNPrs863225196
dbSNP (old)rs863225196
ClinGenrs863225196
ebirs863225196
HLIrs863225196
Exacrs863225196
Gnomadrs863225196
Varsomers863225196
Maprs863225196
PheGenIrs863225196
Biobankrs863225196
1000 genomesrs863225196
hgdprs863225196
ensemblrs863225196
gopubmedrs863225196
geneviewrs863225196
scholarrs863225196
googlers863225196
pharmgkbrs863225196
gwascentralrs863225196
openSNPrs863225196
23andMers863225196
23andMe allrs863225196
SNP Nexus

SNPshotrs863225196
SNPdbers863225196
MSV3drs863225196
GWAS Ctlgrs863225196
StatusMerged into rs587777144
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs863225196(AT;AT)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.67998297_67998298delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087073.5,