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rs730882182

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882182(-;-)
Make rs730882182(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position135168636
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs730882182
ebirs730882182
HLIrs730882182
Exacrs730882182
Varsomers730882182
Maprs730882182
PheGenIrs730882182
hapmaprs730882182
1000 genomesrs730882182
hgdprs730882182
ensemblrs730882182
gopubmedrs730882182
geneviewrs730882182
scholarrs730882182
googlers730882182
pharmgkbrs730882182
gwascentralrs730882182
openSNPrs730882182
23andMers730882182
23andMe allrs730882182
SNP Nexus

SNPshotrs730882182
SNPdbers730882182
MSV3drs730882182
GWAS Ctlgrs730882182
Max Magnitude0
ClinVar
Risk rs730882182(;)
Alt rs730882182(;)
Reference rs730882182(C;C)
Significance Pathogenic
Disease Warburg micro syndrome 1
Variation info
Gene RAB3GAP1
CLNDBN Warburg micro syndrome 1
Reversed 0
HGVS NC_000002.11:g.135926206delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007472.3,