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rs104894499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894499(C;C)
Make rs104894499(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position55223902
GeneRAB27A
is asnp
is mentioned by
dbSNPrs104894499
ClinGenrs104894499
ebirs104894499
HLIrs104894499
Exacrs104894499
Varsomers104894499
Maprs104894499
PheGenIrs104894499
hapmaprs104894499
1000 genomesrs104894499
hgdprs104894499
ensemblrs104894499
gopubmedrs104894499
geneviewrs104894499
scholarrs104894499
googlers104894499
pharmgkbrs104894499
gwascentralrs104894499
openSNPrs104894499
23andMers104894499
23andMe allrs104894499
SNP Nexus

SNPshotrs104894499
SNPdbers104894499
MSV3drs104894499
GWAS Ctlgrs104894499
Max Magnitude0
OMIM603868
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894499(C;C)
Alt rs104894499(C;C)
Reference Rs104894499(G;G)
Significance Pathogenic
Disease Griscelli syndrome type 2
Variation info
Gene RAB27A
CLNDBN Griscelli syndrome type 2
Reversed 1
HGVS NC_000015.9:g.55516100C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006353.2,