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rs587777167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777167(A;A)
Make rs587777167(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position220191279
GeneRAB3GAP2
is asnp
is mentioned by
dbSNPrs587777167
ebirs587777167
HLIrs587777167
Exacrs587777167
Varsomers587777167
Maprs587777167
PheGenIrs587777167
hapmaprs587777167
1000 genomesrs587777167
hgdprs587777167
ensemblrs587777167
gopubmedrs587777167
geneviewrs587777167
scholarrs587777167
googlers587777167
pharmgkbrs587777167
gwascentralrs587777167
openSNPrs587777167
23andMers587777167
23andMe allrs587777167
SNP Nexus

SNPshotrs587777167
SNPdbers587777167
MSV3drs587777167
GWAS Ctlgrs587777167
Max Magnitude0
ClinVar
Risk rs587777167(A;A)
Alt rs587777167(A;A)
Reference rs587777167(G;G)
Significance Pathogenic
Disease Martsolf syndrome
Variation info
Gene RAB3GAP2
CLNDBN Martsolf syndrome
Reversed 0
HGVS NC_000001.10:g.220364621G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087150.3,