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rs104894498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894498(C;C)
Make rs104894498(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position55223967
GeneRAB27A
is asnp
is mentioned by
dbSNPrs104894498
ebirs104894498
HLIrs104894498
Exacrs104894498
Varsomers104894498
Maprs104894498
PheGenIrs104894498
hapmaprs104894498
1000 genomesrs104894498
hgdprs104894498
ensemblrs104894498
gopubmedrs104894498
geneviewrs104894498
scholarrs104894498
googlers104894498
pharmgkbrs104894498
gwascentralrs104894498
openSNPrs104894498
23andMers104894498
23andMe allrs104894498
SNP Nexus

SNPshotrs104894498
SNPdbers104894498
MSV3drs104894498
GWAS Ctlgrs104894498
Max Magnitude0
OMIM603868
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894498(C;C)
Alt rs104894498(C;C)
Reference rs104894498(T;T)
Significance Pathogenic
Disease Griscelli syndrome type 2
Variation info
Gene RAB27A
CLNDBN Griscelli syndrome type 2
Reversed 1
HGVS NC_000015.9:g.55516165A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006352.2,