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rs104894497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894497(C;C)
Make rs104894497(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position55228693
GeneRAB27A
is asnp
is mentioned by
dbSNPrs104894497
ebirs104894497
HLIrs104894497
Exacrs104894497
Varsomers104894497
Maprs104894497
PheGenIrs104894497
hapmaprs104894497
1000 genomesrs104894497
hgdprs104894497
ensemblrs104894497
gopubmedrs104894497
geneviewrs104894497
scholarrs104894497
googlers104894497
pharmgkbrs104894497
gwascentralrs104894497
openSNPrs104894497
23andMers104894497
23andMe allrs104894497
SNP Nexus

SNPshotrs104894497
SNPdbers104894497
MSV3drs104894497
GWAS Ctlgrs104894497
Max Magnitude0
OMIM603868
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894497(A,C;A,C)
Alt rs104894497(A,C;A,C)
Reference rs104894497(G;G)
Significance Pathogenic
Disease Griscelli syndrome type 2 not specified
Variation info
Gene RAB27A
CLNDBN Griscelli syndrome type 2 not specified
Reversed 1
HGVS NC_000015.9:g.55520891C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006357.2, RCV000169674.1,