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rs137853052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853052(C;T)
Make rs137853052(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position135150456
GeneRAB3GAP1
is asnp
is mentioned by
dbSNPrs137853052
ebirs137853052
HLIrs137853052
Exacrs137853052
Varsomers137853052
Maprs137853052
PheGenIrs137853052
hapmaprs137853052
1000 genomesrs137853052
hgdprs137853052
ensemblrs137853052
gopubmedrs137853052
geneviewrs137853052
scholarrs137853052
googlers137853052
pharmgkbrs137853052
gwascentralrs137853052
openSNPrs137853052
23andMers137853052
23andMe allrs137853052
SNP Nexus

SNPshotrs137853052
SNPdbers137853052
MSV3drs137853052
GWAS Ctlgrs137853052
Max Magnitude0
OMIM602536
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853052(T;T)
Alt rs137853052(T;T)
Reference rs137853052(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.135908026C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007475.3,