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rs587776651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776651(A;A)
Make rs587776651(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position135120919
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs587776651
dbSNP (classic)rs587776651
ClinGenrs587776651
ebirs587776651
HLIrs587776651
Exacrs587776651
Gnomadrs587776651
Varsomers587776651
LitVarrs587776651
Maprs587776651
PheGenIrs587776651
Biobankrs587776651
1000 genomesrs587776651
hgdprs587776651
ensemblrs587776651
geneviewrs587776651
scholarrs587776651
googlers587776651
pharmgkbrs587776651
gwascentralrs587776651
openSNPrs587776651
23andMers587776651
SNPshotrs587776651
SNPdbers587776651
MSV3drs587776651
GWAS Ctlgrs587776651
Max Magnitude0
ClinVar
Risk rs587776651(A;A)
Alt rs587776651(A;A)
Reference Rs587776651(G;G)
Significance Pathogenic
Disease Warburg micro syndrome 1
Variation info
Gene RAB3GAP1
CLNDBN Warburg micro syndrome 1
Reversed 0
HGVS NC_000002.11:g.135878489G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007474.4,