Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894500(C;T)
Make rs104894500(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position55224004
GeneRAB27A
is asnp
is mentioned by
dbSNPrs104894500
ebirs104894500
HLIrs104894500
Exacrs104894500
Varsomers104894500
Maprs104894500
PheGenIrs104894500
hapmaprs104894500
1000 genomesrs104894500
hgdprs104894500
ensemblrs104894500
gopubmedrs104894500
geneviewrs104894500
scholarrs104894500
googlers104894500
pharmgkbrs104894500
gwascentralrs104894500
openSNPrs104894500
23andMers104894500
23andMe allrs104894500
SNP Nexus

SNPshotrs104894500
SNPdbers104894500
MSV3drs104894500
GWAS Ctlgrs104894500
Max Magnitude0
OMIM603868
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894500(T;T)
Alt rs104894500(T;T)
Reference rs104894500(C;C)
Significance Pathogenic
Disease Griscelli syndrome type 2
Variation info
Gene RAB27A
CLNDBN Griscelli syndrome type 2
Reversed 1
HGVS NC_000015.9:g.55516202G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006356.2,