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rs587777155

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777155(A;T)
Make rs587777155(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position135052482
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs587777155
dbSNP (classic)rs587777155
ClinGenrs587777155
ebirs587777155
HLIrs587777155
Exacrs587777155
Gnomadrs587777155
Varsomers587777155
LitVarrs587777155
Maprs587777155
PheGenIrs587777155
Biobankrs587777155
1000 genomesrs587777155
hgdprs587777155
ensemblrs587777155
geneviewrs587777155
scholarrs587777155
googlers587777155
pharmgkbrs587777155
gwascentralrs587777155
openSNPrs587777155
23andMers587777155
SNPshotrs587777155
SNPdbers587777155
MSV3drs587777155
GWAS Ctlgrs587777155
Max Magnitude0
ClinVar
Risk rs587777155(T;T)
Alt rs587777155(T;T)
Reference Rs587777155(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.135810052A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087136.4,