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rs794727324

From SNPedia

Orientationplus
Geno Mag Summary
(TTACC;TTACC) 0 common in clinvar
Make rs794727324(-;-)
Make rs794727324(-;ACCTT)
Make rs794727324(ACCTT;ACCTT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position135162608
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs794727324
ebirs794727324
HLIrs794727324
Exacrs794727324
Varsomers794727324
Maprs794727324
PheGenIrs794727324
hapmaprs794727324
1000 genomesrs794727324
hgdprs794727324
ensemblrs794727324
gopubmedrs794727324
geneviewrs794727324
scholarrs794727324
googlers794727324
pharmgkbrs794727324
gwascentralrs794727324
openSNPrs794727324
23andMers794727324
23andMe allrs794727324
SNP Nexus

SNPshotrs794727324
SNPdbers794727324
MSV3drs794727324
GWAS Ctlgrs794727324
Max Magnitude0
ClinVar
Risk rs794727324(;)
Alt rs794727324(;)
Reference rs794727324(TTACC;TTACC)
Significance Pathogenic
Disease Warburg micro syndrome 1
Variation info
Gene RAB3GAP1
CLNDBN Warburg micro syndrome 1
Reversed 0
HGVS NC_000002.11:g.135920178_135920182delACCTT
CLNSRC
CLNACC RCV000176089.1,