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rs730882183

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882183(A;G)
Make rs730882183(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position135120817
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs730882183
ebirs730882183
HLIrs730882183
Exacrs730882183
Varsomers730882183
Maprs730882183
PheGenIrs730882183
hapmaprs730882183
1000 genomesrs730882183
hgdprs730882183
ensemblrs730882183
gopubmedrs730882183
geneviewrs730882183
scholarrs730882183
googlers730882183
pharmgkbrs730882183
gwascentralrs730882183
openSNPrs730882183
23andMers730882183
23andMe allrs730882183
SNP Nexus

SNPshotrs730882183
SNPdbers730882183
MSV3drs730882183
GWAS Ctlgrs730882183
Max Magnitude0
ClinVar
Risk rs730882183(G;G)
Alt rs730882183(G;G)
Reference rs730882183(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.135878387A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007473.3,