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rs587777141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777141(-;-)
Make rs587777141(-;A)
Make rs587777141(A;A)
ReferenceGRCh38 38.1/142
Chromosome8
Position67190656
GeneARFGEF1, CSPP1
is asnp
is mentioned by
dbSNPrs587777141
ebirs587777141
HLIrs587777141
Exacrs587777141
Varsomers587777141
Maprs587777141
PheGenIrs587777141
hapmaprs587777141
1000 genomesrs587777141
hgdprs587777141
ensemblrs587777141
gopubmedrs587777141
geneviewrs587777141
scholarrs587777141
googlers587777141
pharmgkbrs587777141
gwascentralrs587777141
openSNPrs587777141
23andMers587777141
23andMe allrs587777141
SNP Nexus

SNPshotrs587777141
SNPdbers587777141
MSV3drs587777141
GWAS Ctlgrs587777141
Max Magnitude0
ClinVar
Risk rs587777141(A;A)
Alt rs587777141(A;A)
Reference rs587777141(;)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1 ARFGEF1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68102891dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087069.6,