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rs587777168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777168(C;T)
Make rs587777168(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position220191121
GeneRAB3GAP2
is asnp
is mentioned by
dbSNPrs587777168
ebirs587777168
HLIrs587777168
Exacrs587777168
Varsomers587777168
Maprs587777168
PheGenIrs587777168
hapmaprs587777168
1000 genomesrs587777168
hgdprs587777168
ensemblrs587777168
gopubmedrs587777168
geneviewrs587777168
scholarrs587777168
googlers587777168
pharmgkbrs587777168
gwascentralrs587777168
openSNPrs587777168
23andMers587777168
23andMe allrs587777168
SNP Nexus

SNPshotrs587777168
SNPdbers587777168
MSV3drs587777168
GWAS Ctlgrs587777168
Max Magnitude0
ClinVar
Risk rs587777168(C,T;C,T)
Alt rs587777168(C,T;C,T)
Reference rs587777168(G;G)
Significance Pathogenic
Disease Warburg micro syndrome 2
Variation info
Gene RAB3GAP2
CLNDBN Warburg micro syndrome 2
Reversed 1
HGVS NC_000001.10:g.220364463C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087151.3,