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rs267606996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606996(A;A)
Make rs267606996(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position135133944
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs267606996
ebirs267606996
HLIrs267606996
Exacrs267606996
Varsomers267606996
Maprs267606996
PheGenIrs267606996
hapmaprs267606996
1000 genomesrs267606996
hgdprs267606996
ensemblrs267606996
gopubmedrs267606996
geneviewrs267606996
scholarrs267606996
googlers267606996
pharmgkbrs267606996
gwascentralrs267606996
openSNPrs267606996
23andMers267606996
23andMe allrs267606996
SNP Nexus

SNPshotrs267606996
SNPdbers267606996
MSV3drs267606996
GWAS Ctlgrs267606996
Max Magnitude0
ClinVar
Risk rs267606996(A;A)
Alt rs267606996(A;A)
Reference rs267606996(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.135891514C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007477.3,