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rs28938176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28938176(G;G)
Make rs28938176(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position55230423
GeneRAB27A
is asnp
is mentioned by
dbSNPrs28938176
ebirs28938176
HLIrs28938176
Exacrs28938176
Varsomers28938176
Maprs28938176
PheGenIrs28938176
hapmaprs28938176
1000 genomesrs28938176
hgdprs28938176
ensemblrs28938176
gopubmedrs28938176
geneviewrs28938176
scholarrs28938176
googlers28938176
pharmgkbrs28938176
gwascentralrs28938176
openSNPrs28938176
23andMers28938176
23andMe allrs28938176
SNP Nexus

SNPshotrs28938176
SNPdbers28938176
MSV3drs28938176
GWAS Ctlgrs28938176
Max Magnitude0
OMIM603868
DescGRISCELLI SYNDROME, TYPE 2
Variant0001
Relatedalso


ClinVar
Risk rs28938176(G;G)
Alt rs28938176(G;G)
Reference rs28938176(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.55522621A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006348.2,