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rs767481076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTTG;GCTTG) 0 common in clinvar
Make rs767481076(-;-)
Make rs767481076(-;GCTTG)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position55205655
GeneRAB27A
is asnp
is mentioned by
dbSNPrs767481076
dbSNP (classic)rs767481076
ClinGenrs767481076
ebirs767481076
HLIrs767481076
Exacrs767481076
Gnomadrs767481076
Varsomers767481076
LitVarrs767481076
Maprs767481076
PheGenIrs767481076
Biobankrs767481076
1000 genomesrs767481076
hgdprs767481076
ensemblrs767481076
geneviewrs767481076
scholarrs767481076
googlers767481076
pharmgkbrs767481076
gwascentralrs767481076
openSNPrs767481076
23andMers767481076
SNPshotrs767481076
SNPdbers767481076
MSV3drs767481076
GWAS Ctlgrs767481076
Max Magnitude0
ClinVar
Risk rs767481076(-;-)
Alt rs767481076(-;-)
Reference Rs767481076(GCTTG;GCTTG)
Significance Probable-Pathogenic
Disease Griscelli syndrome type 2
Variation info
Gene RAB27A
CLNDBN Griscelli syndrome type 2
Reversed 0
HGVS NC_000015.9:g.55497853_55497857delGCTTG
CLNSRC
CLNACC RCV000477784.1,