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rs121434310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434310(G;T)
Make rs121434310(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position220164733
GeneRAB3GAP2
is asnp
is mentioned by
dbSNPrs121434310
ebirs121434310
HLIrs121434310
Exacrs121434310
Varsomers121434310
Maprs121434310
PheGenIrs121434310
hapmaprs121434310
1000 genomesrs121434310
hgdprs121434310
ensemblrs121434310
gopubmedrs121434310
geneviewrs121434310
scholarrs121434310
googlers121434310
pharmgkbrs121434310
gwascentralrs121434310
openSNPrs121434310
23andMers121434310
23andMe allrs121434310
SNP Nexus

SNPshotrs121434310
SNPdbers121434310
MSV3drs121434310
GWAS Ctlgrs121434310
Max Magnitude0
OMIM609275
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434310(T;T)
Alt rs121434310(T;T)
Reference rs121434310(G;G)
Significance Pathogenic
Disease Martsolf syndrome
Variation info
Gene RAB3GAP2
CLNDBN Martsolf syndrome
Reversed 1
HGVS NC_000001.10:g.220338075C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001894.2,