rs28938176

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs28938176(G;G)

Make rs28938176(G;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

55230423

Gene

RAB27A

is a	snp
is	mentioned by
dbSNP	rs28938176
dbSNP (classic)	rs28938176
ClinGen	rs28938176
ebi	rs28938176
HLI	rs28938176
Exac	rs28938176
Gnomad	rs28938176
Varsome	rs28938176
LitVar	rs28938176
Map	rs28938176
PheGenI	rs28938176
Biobank	rs28938176
1000 genomes	rs28938176
hgdp	rs28938176
ensembl	rs28938176
geneview	rs28938176
scholar	rs28938176
google	rs28938176
pharmgkb	rs28938176
gwascentral	rs28938176
openSNP	rs28938176
23andMe	rs28938176
SNPshot	rs28938176
SNPdbe	rs28938176
MSV3d	rs28938176
GWAS Ctlg	rs28938176

Max Magnitude

0

OMIM	603868
Desc	GRISCELLI SYNDROME, TYPE 2
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000006348.2,