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rs587777170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777170(A;A)
Make rs587777170(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position220167295
GeneRAB3GAP2
is asnp
is mentioned by
dbSNPrs587777170
ebirs587777170
HLIrs587777170
Exacrs587777170
Varsomers587777170
Maprs587777170
PheGenIrs587777170
hapmaprs587777170
1000 genomesrs587777170
hgdprs587777170
ensemblrs587777170
gopubmedrs587777170
geneviewrs587777170
scholarrs587777170
googlers587777170
pharmgkbrs587777170
gwascentralrs587777170
openSNPrs587777170
23andMers587777170
23andMe allrs587777170
SNP Nexus

SNPshotrs587777170
SNPdbers587777170
MSV3drs587777170
GWAS Ctlgrs587777170
Max Magnitude0
ClinVar
Risk rs587777170(A,C;A,C)
Alt rs587777170(A,C;A,C)
Reference rs587777170(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.220340637C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087153.3,