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rs587777154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777154(A;C)
Make rs587777154(C;C)
ReferenceGRCh38 38.1/142
Chromosome2
Position135052463
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs587777154
dbSNP (classic)rs587777154
ClinGenrs587777154
ebirs587777154
HLIrs587777154
Exacrs587777154
Gnomadrs587777154
Varsomers587777154
LitVarrs587777154
Maprs587777154
PheGenIrs587777154
Biobankrs587777154
1000 genomesrs587777154
hgdprs587777154
ensemblrs587777154
geneviewrs587777154
scholarrs587777154
googlers587777154
pharmgkbrs587777154
gwascentralrs587777154
openSNPrs587777154
23andMers587777154
SNPshotrs587777154
SNPdbers587777154
MSV3drs587777154
GWAS Ctlgrs587777154
Max Magnitude0
ClinVar
Risk rs587777154(C;C)
Alt rs587777154(C;C)
Reference Rs587777154(A;A)
Significance Pathogenic
Disease Warburg micro syndrome 1
Variation info
Gene RAB3GAP1
CLNDBN Warburg micro syndrome 1
Reversed 0
HGVS NC_000002.11:g.135810033A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087135.4,