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rs587777145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs587777145(-;-)
Make rs587777145(-;AAGA)
Make rs587777145(AAGA;AAGA)
ReferenceGRCh38 38.1/142
Chromosome8
Position67158464
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777145
ebirs587777145
HLIrs587777145
Exacrs587777145
Varsomers587777145
Maprs587777145
PheGenIrs587777145
hapmaprs587777145
1000 genomesrs587777145
hgdprs587777145
ensemblrs587777145
gopubmedrs587777145
geneviewrs587777145
scholarrs587777145
googlers587777145
pharmgkbrs587777145
gwascentralrs587777145
openSNPrs587777145
23andMers587777145
23andMe allrs587777145
SNP Nexus

SNPshotrs587777145
SNPdbers587777145
MSV3drs587777145
GWAS Ctlgrs587777145
Max Magnitude0
ClinVar
Risk rs587777145(;)
Alt rs587777145(;)
Reference rs587777145(AAAG;AAAG)
Significance Pathogenic
Disease Joubert syndrome 21 Meckel-Gruber syndrome
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21 Meckel-Gruber syndrome
Reversed 0
HGVS NC_000008.10:g.68070699_68070702delAAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087074.5, RCV000162164.1,